8-31638152-A-T

Variant names:

• chr8-31638152-A-T
• rs7014762

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 0.7 in 152,018 control chromosomes in the GnomAD database, including 37,732 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 0.70 (37732 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.345
• Publications: 11 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.747 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.700 AC: 106402 AN: 151900 Hom.: 37712 Cov.: 31

Gnomad AFR AF: 0.583

Gnomad AMI AF: 0.687

Gnomad AMR AF: 0.718

Gnomad ASJ AF: 0.772

Gnomad EAS AF: 0.660

Gnomad SAS AF: 0.717

Gnomad FIN AF: 0.783

Gnomad MID AF: 0.753

Gnomad NFE AF: 0.753

Gnomad OTH AF: 0.719

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

GnomAD4 genome AF: 0.700 AC: 106457 AN: 152018 Hom.: 37732 Cov.: 31 AF XY: 0.701 AC XY: 52136 AN XY: 74324

African (AFR) AF: 0.582 AC: 24139 AN: 41442

American (AMR) AF: 0.718 AC: 10975 AN: 15276

Ashkenazi Jewish (ASJ) AF: 0.772 AC: 2679 AN: 3472

East Asian (EAS) AF: 0.661 AC: 3401 AN: 5146

South Asian (SAS) AF: 0.718 AC: 3456 AN: 4816

European-Finnish (FIN) AF: 0.783 AC: 8285 AN: 10586

Middle Eastern (MID) AF: 0.765 AC: 225 AN: 294

European-Non Finnish (NFE) AF: 0.753 AC: 51160 AN: 67966

Other (OTH) AF: 0.717 AC: 1512 AN: 2110

Alfa AF: 0.724 Hom.: 4993

Bravo AF: 0.693

Asia WGS AF: 0.661 AC: 2298 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	6.6
DANN	Benign	0.31
PhyloP100		0.34

Splicing

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

Other links and lift over

dbSNP: rs7014762; hg19: chr8-31495668;