rs764637

Variant names:

• chr2-210776279-G-A
• rs764637

Your query was ambiguous. Multiple possible variants found:

• chr2-210776279-G-A
• chr2-210776279-G-C

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.932 in 152,114 control chromosomes in the GnomAD database, including 66,050 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 0.93 (66050 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -4.63
• Publications: 2 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.07).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.976 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: 0.932 AC: 141664 AN: 151996 Hom.: 66014 Cov.: 30

Gnomad AFR AF: 0.920

Gnomad AMI AF: 0.882

Gnomad AMR AF: 0.950

Gnomad ASJ AF: 0.922

Gnomad EAS AF: 0.999

Gnomad SAS AF: 0.968

Gnomad FIN AF: 0.903

Gnomad MID AF: 0.867

Gnomad NFE AF: 0.934

Gnomad OTH AF: 0.923

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

GnomAD4 genome AF: 0.932 AC: 141759 AN: 152114 Hom.: 66050 Cov.: 30 AF XY: 0.932 AC XY: 69281 AN XY: 74350

African (AFR) AF: 0.920 AC: 38163 AN: 41492

American (AMR) AF: 0.951 AC: 14506 AN: 15260

Ashkenazi Jewish (ASJ) AF: 0.922 AC: 3198 AN: 3470

East Asian (EAS) AF: 0.999 AC: 5145 AN: 5150

South Asian (SAS) AF: 0.968 AC: 4664 AN: 4820

European-Finnish (FIN) AF: 0.903 AC: 9567 AN: 10590

Middle Eastern (MID) AF: 0.864 AC: 254 AN: 294

European-Non Finnish (NFE) AF: 0.934 AC: 63508 AN: 68016

Other (OTH) AF: 0.924 AC: 1950 AN: 2110

Alfa AF: 0.930 Hom.: 92636

Bravo AF: 0.934

Asia WGS AF: 0.978 AC: 3402 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.1
CADD	Benign	0.21
DANN	Benign	0.56
PhyloP100		-4.6

Splicing

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

Other links and lift over

dbSNP: rs764637; hg19: chr2-211641003;