8-31632958-G-A

Position:

• chr8-31632958-G-A

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.551 in 151,814 control chromosomes in the GnomAD database, including 23,609 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 0.55 (23609 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.721

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.95).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.623 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.551 AC: 83575 AN: 151698 Hom.: 23599 Cov.: 32

Gnomad AFR AF: 0.433

Gnomad AMI AF: 0.623

Gnomad AMR AF: 0.634

Gnomad ASJ AF: 0.521

Gnomad EAS AF: 0.421

Gnomad SAS AF: 0.505

Gnomad FIN AF: 0.595

Gnomad MID AF: 0.509

Gnomad NFE AF: 0.612

Gnomad OTH AF: 0.536

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

GnomAD4 genome AF: 0.551 AC: 83606 AN: 151814 Hom.: 23609 Cov.: 32 AF XY: 0.551 AC XY: 40853 AN XY: 74194

Gnomad4 AFR AF: 0.432

Gnomad4 AMR AF: 0.634

Gnomad4 ASJ AF: 0.521

Gnomad4 EAS AF: 0.420

Gnomad4 SAS AF: 0.505

Gnomad4 FIN AF: 0.595

Gnomad4 NFE AF: 0.612

Gnomad4 OTH AF: 0.535

Alfa AF: 0.597 Hom.: 55324

Bravo AF: 0.548

Asia WGS AF: 0.503 AC: 1739 AN: 3454

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
CADD	Benign	7.1
DANN	Benign	0.20

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs4733263; hg19: chr8-31490474;