rs8031937

Variant names:

• chr15-74888780-A-G
• rs8031937

Your query was ambiguous. Multiple possible variants found:

• chr15-74888780-A-G
• chr15-74888780-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 0.679 in 152,052 control chromosomes in the GnomAD database, including 35,196 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 0.68 (35196 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.415
• Publications: 13 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 (EAS) allele frequency at 95% confidence interval = 0.858 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

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

Ensembl Transcripts

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

Frequencies

GnomAD3 genomes AF: 0.678 AC: 103086 AN: 151934 Hom.: 35157 Cov.: 32

Gnomad AFR AF: 0.634

Gnomad AMI AF: 0.761

Gnomad AMR AF: 0.718

Gnomad ASJ AF: 0.650

Gnomad EAS AF: 0.880

Gnomad SAS AF: 0.652

Gnomad FIN AF: 0.644

Gnomad MID AF: 0.712

Gnomad NFE AF: 0.689

Gnomad OTH AF: 0.678

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

GnomAD4 genome AF: 0.679 AC: 103174 AN: 152052 Hom.: 35196 Cov.: 32 AF XY: 0.676 AC XY: 50228 AN XY: 74318

African (AFR) AF: 0.634 AC: 26294 AN: 41462

American (AMR) AF: 0.719 AC: 10991 AN: 15294

Ashkenazi Jewish (ASJ) AF: 0.650 AC: 2254 AN: 3466

East Asian (EAS) AF: 0.880 AC: 4553 AN: 5176

South Asian (SAS) AF: 0.652 AC: 3144 AN: 4824

European-Finnish (FIN) AF: 0.644 AC: 6804 AN: 10558

Middle Eastern (MID) AF: 0.718 AC: 211 AN: 294

European-Non Finnish (NFE) AF: 0.689 AC: 46799 AN: 67960

Other (OTH) AF: 0.679 AC: 1430 AN: 2106

Alfa AF: 0.692 Hom.: 141057

Bravo AF: 0.688

Asia WGS AF: 0.798 AC: 2777 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	2.7
DANN	Benign	0.78
PhyloP100		-0.41

Splicing

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

Other links and lift over

dbSNP: rs8031937; hg19: chr15-75181121;