rs2036657

Variant names:

• chr17-4721864-G-A
• rs2036657

Your query was ambiguous. Multiple possible variants found:

• chr17-4721864-G-A
• chr17-4721864-G-C

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.63 in 152,104 control chromosomes in the GnomAD database, including 31,362 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.63 (31362 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.22

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.76).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.801 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.630 AC: 95697 AN: 151986 Hom.: 31334 Cov.: 32

Gnomad AFR AF: 0.435

Gnomad AMI AF: 0.522

Gnomad AMR AF: 0.689

Gnomad ASJ AF: 0.678

Gnomad EAS AF: 0.822

Gnomad SAS AF: 0.808

Gnomad FIN AF: 0.769

Gnomad MID AF: 0.491

Gnomad NFE AF: 0.686

Gnomad OTH AF: 0.615

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.630 AC: 95758 AN: 152104 Hom.: 31362 Cov.: 32 AF XY: 0.638 AC XY: 47414 AN XY: 74362

Gnomad4 AFR AF: 0.435

Gnomad4 AMR AF: 0.689

Gnomad4 ASJ AF: 0.678

Gnomad4 EAS AF: 0.822

Gnomad4 SAS AF: 0.809

Gnomad4 FIN AF: 0.769

Gnomad4 NFE AF: 0.686

Gnomad4 OTH AF: 0.619

Alfa AF: 0.665 Hom.: 6997

Bravo AF: 0.613

Asia WGS AF: 0.794 AC: 2762 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.76
CADD	Benign	6.0
DANN	Benign	0.83

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Other links and lift over

dbSNP: rs2036657; hg19: chr17-4625159;