8-31618140-T-G

Variant names:

• chr8-31618140-T-G
• rs10096573

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 0.422 in 151,992 control chromosomes in the GnomAD database, including 14,339 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 0.42 (14339 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.97
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.563 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: 0.422 AC: 64100 AN: 151874 Hom.: 14328 Cov.: 32

Gnomad AFR AF: 0.267

Gnomad AMI AF: 0.396

Gnomad AMR AF: 0.406

Gnomad ASJ AF: 0.558

Gnomad EAS AF: 0.580

Gnomad SAS AF: 0.470

Gnomad FIN AF: 0.535

Gnomad MID AF: 0.541

Gnomad NFE AF: 0.478

Gnomad OTH AF: 0.470

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

GnomAD4 genome AF: 0.422 AC: 64126 AN: 151992 Hom.: 14339 Cov.: 32 AF XY: 0.425 AC XY: 31601 AN XY: 74320

African (AFR) AF: 0.266 AC: 11041 AN: 41464

American (AMR) AF: 0.406 AC: 6197 AN: 15258

Ashkenazi Jewish (ASJ) AF: 0.558 AC: 1935 AN: 3468

East Asian (EAS) AF: 0.581 AC: 3003 AN: 5172

South Asian (SAS) AF: 0.472 AC: 2275 AN: 4822

European-Finnish (FIN) AF: 0.535 AC: 5653 AN: 10560

Middle Eastern (MID) AF: 0.554 AC: 163 AN: 294

European-Non Finnish (NFE) AF: 0.478 AC: 32504 AN: 67940

Other (OTH) AF: 0.472 AC: 995 AN: 2106

Alfa AF: 0.442 Hom.: 1908

Bravo AF: 0.405

Asia WGS AF: 0.480 AC: 1669 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	17
DANN	Benign	0.53
PhyloP100		2.0

Splicing

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

Other links and lift over

dbSNP: rs10096573; hg19: chr8-31475656;