rs2761437

Variant names:

• chr1-207749736-A-G
• rs2761437

Your query was ambiguous. Multiple possible variants found:

• chr1-207749736-A-G
• chr1-207749736-A-T

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 0.798 in 152,148 control chromosomes in the GnomAD database, including 48,541 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 0.80 (48541 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.884

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.97).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.971 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: 0.798 AC: 121287 AN: 152030 Hom.: 48483 Cov.: 32

Gnomad AFR AF: 0.797

Gnomad AMI AF: 0.886

Gnomad AMR AF: 0.753

Gnomad ASJ AF: 0.868

Gnomad EAS AF: 0.993

Gnomad SAS AF: 0.853

Gnomad FIN AF: 0.780

Gnomad MID AF: 0.829

Gnomad NFE AF: 0.786

Gnomad OTH AF: 0.826

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

GnomAD4 genome AF: 0.798 AC: 121396 AN: 152148 Hom.: 48541 Cov.: 32 AF XY: 0.799 AC XY: 59456 AN XY: 74374

Gnomad4 AFR AF: 0.798

Gnomad4 AMR AF: 0.753

Gnomad4 ASJ AF: 0.868

Gnomad4 EAS AF: 0.993

Gnomad4 SAS AF: 0.854

Gnomad4 FIN AF: 0.780

Gnomad4 NFE AF: 0.786

Gnomad4 OTH AF: 0.828

Alfa AF: 0.791 Hom.: 62141

Bravo AF: 0.794

Asia WGS AF: 0.917 AC: 3188 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.97
CADD	Benign	1.8
DANN	Benign	0.49

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs2761437; hg19: chr1-207923081;