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00000/149
benign
Given a human single-nucleotide variant and its surrounding reference DNA sequence, classify the variant as either benign or pathogenic. The reference and alternate sequences differ by a single nucleotide at position 4159, using 1-based indexing relative to the sequences shown. At this position, the reference allele C...
To determine whether the single-nucleotide variant (SNV) is **benign** or **pathogenic**, we perform a step-by-step genomic analysis of the reference and alternate DNA sequences provided. --- ### Step 1: Identify the Variant and Its Genomic Position By aligning the provided **Reference DNA sequence** and **Alternate...
benign
true
gemini-3.6-flash
stop
7,393
697
35,117
43,207
00000/278
benign
Given a human single-nucleotide variant and its surrounding reference DNA sequence, classify the variant as either benign or pathogenic. The reference and alternate sequences differ by a single nucleotide at position 7663, using 1-based indexing relative to the sequences shown. At this position, the reference allele G...
To determine whether the single-nucleotide variant (SNV) is **benign** or **pathogenic**, we analyze its genomic context and potential impact on gene function and protein expression. --- ### Step 1: Identify the Location of the Variant 1. **Variant Position**: The reference and alternate sequences differ at position ...
benign
true
gemini-3.6-flash
stop
7,271
601
14,363
22,235
00000/384
benign
Given a human single-nucleotide variant and its surrounding reference DNA sequence, classify the variant as either benign or pathogenic. The reference and alternate sequences differ by a single nucleotide at position 4841, using 1-based indexing relative to the sequences shown. At this position, the reference allele C...
To determine whether the single-nucleotide variant (SNV) is **benign** or **pathogenic**, we perform a step-by-step analysis of the sequence context, variant location, and potential functional impact. --- ### Step 1: Variant Identification and Localization 1. **Sequence Comparison**: Comparing the provided `Reference...
benign
true
gemini-3.6-flash
stop
7,331
550
17,153
25,034
00000/405
benign
Given a human single-nucleotide variant and its surrounding reference DNA sequence, classify the variant as either benign or pathogenic. The reference and alternate sequences differ by a single nucleotide at position 4167, using 1-based indexing relative to the sequences shown. At this position, the reference allele G...
To classify the given human single-nucleotide variant (SNV), we perform a step-by-step genomic and bioinformatic analysis of the sequence provided. --- ### Step 1: Sequence Alignment and Gene Identification 1. **Gene Identification:** By translating the downstream coding sequence from the splice acceptor site `CA...
benign
true
gemini-3.6-flash
stop
7,241
761
25,019
33,021
00000/559
benign
Given a human single-nucleotide variant and its surrounding reference DNA sequence, classify the variant as either benign or pathogenic. The reference and alternate sequences differ by a single nucleotide at position 1723, using 1-based indexing relative to the sequences shown. At this position, the reference allele T...
To determine the pathogenicity of the given single-nucleotide variant (SNV), we analyze the genomic context, position, reading frames, and functional impact on the corresponding human gene. --- ### Step 1: Sequence Alignment & Variant Identification Comparing the reference and alternate DNA sequences provided: * **P...
benign
true
gemini-3.6-flash
stop
7,193
653
43,060
50,906
00000/81
benign
Given a human single-nucleotide variant and its surrounding reference DNA sequence, classify the variant as either benign or pathogenic. The reference and alternate sequences differ by a single nucleotide at position 6023, using 1-based indexing relative to the sequences shown. At this position, the reference allele G...
To classify the human single-nucleotide variant (SNV) as either **benign** or **pathogenic**, we perform a sequence alignment, context analysis, functional impact assessment, and application of standard clinical genetics criteria (such as ACMG/AMP variant interpretation guidelines). --- ### Step 1: Sequence Compariso...
benign
true
gemini-3.6-flash
stop
7,323
774
30,012
38,109
00000/9
benign
Given a human single-nucleotide variant and its surrounding reference DNA sequence, classify the variant as either benign or pathogenic. The reference and alternate sequences differ by a single nucleotide at position 4177, using 1-based indexing relative to the sequences shown. At this position, the reference allele A...
To classify the given single-nucleotide variant (SNV) as either **benign** or **pathogenic**, we perform a step-by-step genomic sequence analysis: --- ### Step 1: Locate and Extract the Variant By comparing the provided reference and alternate DNA sequences: * **Reference allele at position 4177:** `A` * **Alternate ...
benign
true
gemini-3.6-flash
stop
7,305
718
32,382
40,405
00000/920
benign
Given a human single-nucleotide variant and its surrounding reference DNA sequence, classify the variant as either benign or pathogenic. The reference and alternate sequences differ by a single nucleotide at position 1309, using 1-based indexing relative to the sequences shown. At this position, the reference allele C...
To determine whether the single-nucleotide variant (SNV) is **benign** or **pathogenic**, we perform a step-by-step analysis of the sequence context, codon change, and functional impact relative to standard variant interpretation guidelines (ACMG/AMP criteria). --- ### Step 1: Identification of the Variant - **Locati...
benign
true
gemini-3.6-flash
stop
7,473
816
42,860
51,149
00000/960
benign
Given a human single-nucleotide variant and its surrounding reference DNA sequence, classify the variant as either benign or pathogenic. The reference and alternate sequences differ by a single nucleotide at position 5152, using 1-based indexing relative to the sequences shown. At this position, the reference allele T...
To classify the given human single-nucleotide variant (SNV), we perform a step-by-step genomic sequence analysis, mapping, and functional evaluation: ### 1. Gene and Sequence Identification By examining the provided reference DNA sequence, we identify distinct exon-intron structures. Specifically, around position 4100...
benign
true
gemini-3.6-flash
stop
7,341
630
37,631
45,602
00000/986
benign
Given a human single-nucleotide variant and its surrounding reference DNA sequence, classify the variant as either benign or pathogenic. The reference and alternate sequences differ by a single nucleotide at position 4784, using 1-based indexing relative to the sequences shown. At this position, the reference allele T...
To determine whether the given single-nucleotide variant (SNV) is **benign** or **pathogenic**, we perform a detailed analysis of the sequence context, reading frames, genomic features, and potential functional impacts. --- ### Step 1: Identify the Variant Location and Local Context From the provided sequences: - **...
benign
true
gemini-3.6-flash
stop
7,335
724
17,449
25,508
00000/14
pathogenic
Given a human single-nucleotide variant and its surrounding reference DNA sequence, classify the variant as either benign or pathogenic. The reference and alternate sequences differ by a single nucleotide at position 7542, using 1-based indexing relative to the sequences shown. At this position, the reference allele G...
To determine whether the given human single-nucleotide variant (SNV) is **benign** or **pathogenic**, we analyze the provided reference and alternate DNA sequences step by step: --- ### Step 1: Locate the Variant Comparing the reference and alternate DNA sequences around position 7542: * **Reference sequence region:...
pathogenic
true
gemini-3.6-flash
stop
7,367
682
4,259
12,308
00000/196
pathogenic
Given a human single-nucleotide variant and its surrounding reference DNA sequence, classify the variant as either benign or pathogenic. The reference and alternate sequences differ by a single nucleotide at position 4302, using 1-based indexing relative to the sequences shown. At this position, the reference allele C...
To classify the given human single-nucleotide variant (SNV), we perform a step-by-step analysis of the nucleotide sequences, the coding frame, and the predicted protein product effect. --- ### Step 1: Identify the Nucleotide Change Comparing the provided **Reference** and **Alternate** DNA sequences at position 4302 ...
pathogenic
true
gemini-3.6-flash
stop
7,421
682
11,328
19,431
00000/213
pathogenic
Given a human single-nucleotide variant and its surrounding reference DNA sequence, classify the variant as either benign or pathogenic. The reference and alternate sequences differ by a single nucleotide at position 4942, using 1-based indexing relative to the sequences shown. At this position, the reference allele C...
To determine whether the given single-nucleotide variant (SNV) is **benign** or **pathogenic**, we perform a systematic analysis of the gene context, reading frame, transcript direction, and functional impact of the nucleotide change. --- ### Step 1: Sequence Alignment and Variant Identification Comparing the referen...
pathogenic
true
gemini-3.6-flash
stop
7,273
814
32,511
40,598
00000/268
pathogenic
Given a human single-nucleotide variant and its surrounding reference DNA sequence, classify the variant as either benign or pathogenic. The reference and alternate sequences differ by a single nucleotide at position 2442, using 1-based indexing relative to the sequences shown. At this position, the reference allele C...
To determine whether the given single-nucleotide variant (SNV) is benign or pathogenic, we analyze the sequence context, identify the affected gene, determine the reading frame, and assess the functional impact of the nucleotide change. --- ### Step 1: Gene Identification By translating several exonic regions contain...
pathogenic
true
gemini-3.6-flash
stop
7,341
731
11,483
19,555
00000/284
pathogenic
Given a human single-nucleotide variant and its surrounding reference DNA sequence, classify the variant as either benign or pathogenic. The reference and alternate sequences differ by a single nucleotide at position 7668, using 1-based indexing relative to the sequences shown. At this position, the reference allele G...
To determine whether the single-nucleotide variant (SNV) is **benign** or **pathogenic**, we perform a step-by-step genomic sequence and functional impact analysis. --- ### Step 1: Variant Identification and Alignment Comparing the provided reference DNA sequence and the alternate DNA sequence: - **Variant Position**...
pathogenic
true
gemini-3.6-flash
stop
7,387
769
37,573
45,729
00000/321
pathogenic
Given a human single-nucleotide variant and its surrounding reference DNA sequence, classify the variant as either benign or pathogenic. The reference and alternate sequences differ by a single nucleotide at position 4314, using 1-based indexing relative to the sequences shown. At this position, the reference allele C...
To classify the given human single-nucleotide variant (SNV), we perform a step-by-step genomic sequence analysis, codon alignment, amino acid translation, and clinical impact assessment based on standard ACMG/AMP (American College of Medical Genetics and Genomics / Association for Molecular Pathology) guidelines. --- ...
pathogenic
true
gemini-3.6-flash
stop
7,389
839
10,160
18,388
00000/377
pathogenic
Given a human single-nucleotide variant and its surrounding reference DNA sequence, classify the variant as either benign or pathogenic. The reference and alternate sequences differ by a single nucleotide at position 4854, using 1-based indexing relative to the sequences shown. At this position, the reference allele G...
To classify the given human single-nucleotide variant (SNV) as either **benign** or **pathogenic**, we perform a step-by-step sequence alignment, structural genomic analysis, and functional impact assessment according to standard clinical genetics guidelines (ACMG/AMP). --- ### Step 1: Variant Identification and Sequ...
pathogenic
true
gemini-3.6-flash
stop
7,343
730
9,979
18,052
00000/608
pathogenic
Given a human single-nucleotide variant and its surrounding reference DNA sequence, classify the variant as either benign or pathogenic. The reference and alternate sequences differ by a single nucleotide at position 3514, using 1-based indexing relative to the sequences shown. At this position, the reference allele G...
To determine whether the given single-nucleotide variant (SNV) is **benign** or **pathogenic**, we analyze the genomic context of the reference sequence and the precise location and nature of the mutation. --- ### Step 1: Identify the Location and Genomic Context of the Variant By comparing the reference sequence wit...
pathogenic
true
gemini-3.6-flash
stop
7,300
577
4,895
12,772
00000/700
pathogenic
Given a human single-nucleotide variant and its surrounding reference DNA sequence, classify the variant as either benign or pathogenic. The reference and alternate sequences differ by a single nucleotide at position 5932, using 1-based indexing relative to the sequences shown. At this position, the reference allele G...
To classify the given human single-nucleotide variant (SNV), we perform a step-by-step sequence analysis: ### 1. Identify Variant Location and Nucleotide Change - **Position**: 5932 (1-based indexing) - **Reference Allele**: `G` - **Alternate Allele**: `A` Comparing the local reference sequence surrounding position 5...
pathogenic
true
gemini-3.6-flash
stop
7,409
578
35,071
43,058
00000/731
pathogenic
Given a human single-nucleotide variant and its surrounding reference DNA sequence, classify the variant as either benign or pathogenic. The reference and alternate sequences differ by a single nucleotide at position 6692, using 1-based indexing relative to the sequences shown. At this position, the reference allele A...
To classify the given human single-nucleotide variant (SNV), we perform a step-by-step genomic and functional analysis: ### 1. Gene Identification By matching the reference DNA sequence against standard reference genomes (GRCh38/hg38), the sequence corresponds to the human **APC** (*Adenomatous Polyposis Coli*) gene, ...
pathogenic
true
gemini-3.6-flash
stop
7,283
570
7,612
15,465