rs4131931

Variant names:

• chr8-67846739-A-C
• rs4131931

Your query was ambiguous. Multiple possible variants found:

• chr8-67846739-A-C
• chr8-67846739-A-G
• chr8-67846739-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 0.841 in 152,206 control chromosomes in the GnomAD database, including 53,989 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 0.84 (53989 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.598
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.01).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.885 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: 0.841 AC: 127951 AN: 152088 Hom.: 53965 Cov.: 32

Gnomad AFR AF: 0.832

Gnomad AMI AF: 0.851

Gnomad AMR AF: 0.898

Gnomad ASJ AF: 0.844

Gnomad EAS AF: 0.795

Gnomad SAS AF: 0.846

Gnomad FIN AF: 0.899

Gnomad MID AF: 0.832

Gnomad NFE AF: 0.828

Gnomad OTH AF: 0.841

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

GnomAD4 genome AF: 0.841 AC: 128028 AN: 152206 Hom.: 53989 Cov.: 32 AF XY: 0.843 AC XY: 62777 AN XY: 74428

African (AFR) AF: 0.832 AC: 34539 AN: 41516

American (AMR) AF: 0.898 AC: 13740 AN: 15304

Ashkenazi Jewish (ASJ) AF: 0.844 AC: 2929 AN: 3470

East Asian (EAS) AF: 0.794 AC: 4108 AN: 5172

South Asian (SAS) AF: 0.846 AC: 4079 AN: 4820

European-Finnish (FIN) AF: 0.899 AC: 9537 AN: 10604

Middle Eastern (MID) AF: 0.827 AC: 243 AN: 294

European-Non Finnish (NFE) AF: 0.828 AC: 56307 AN: 68002

Other (OTH) AF: 0.838 AC: 1770 AN: 2112

Alfa AF: 0.834 Hom.: 9217

Bravo AF: 0.840

Asia WGS AF: 0.793 AC: 2757 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	1.3
DANN	Benign	0.59
PhyloP100		-0.60

Splicing

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

Other links and lift over

dbSNP: rs4131931; hg19: chr8-68758974;