rs2943634

Variant names:

• chr2-226203364-A-C
• rs2943634

Your query was ambiguous. Multiple possible variants found:

• chr2-226203364-A-C
• chr2-226203364-A-G
• chr2-226203364-A-T

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 0.611 in 151,356 control chromosomes in the GnomAD database, including 29,487 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 0.61 (29487 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.790
• Publications: 126 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.888 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: 0.611 AC: 92411 AN: 151238 Hom.: 29465 Cov.: 32

Gnomad AFR AF: 0.422

Gnomad AMI AF: 0.631

Gnomad AMR AF: 0.720

Gnomad ASJ AF: 0.744

Gnomad EAS AF: 0.909

Gnomad SAS AF: 0.774

Gnomad FIN AF: 0.645

Gnomad MID AF: 0.516

Gnomad NFE AF: 0.655

Gnomad OTH AF: 0.633

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

GnomAD4 genome AF: 0.611 AC: 92466 AN: 151356 Hom.: 29487 Cov.: 32 AF XY: 0.614 AC XY: 45424 AN XY: 73944

African (AFR) AF: 0.421 AC: 17435 AN: 41376

American (AMR) AF: 0.720 AC: 10918 AN: 15162

Ashkenazi Jewish (ASJ) AF: 0.744 AC: 2569 AN: 3454

East Asian (EAS) AF: 0.910 AC: 4664 AN: 5126

South Asian (SAS) AF: 0.774 AC: 3731 AN: 4818

European-Finnish (FIN) AF: 0.645 AC: 6800 AN: 10542

Middle Eastern (MID) AF: 0.517 AC: 152 AN: 294

European-Non Finnish (NFE) AF: 0.655 AC: 44285 AN: 67576

Other (OTH) AF: 0.638 AC: 1338 AN: 2098

Alfa AF: 0.655 Hom.: 127064

Bravo AF: 0.612

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	5.0
DANN	Benign	0.75
PhyloP100		0.79

Splicing

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

Other links and lift over

dbSNP: rs2943634; hg19: chr2-227068080;