8-31638065-C-T

Position:

• chr8-31638065-C-T

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 0.409 in 151,930 control chromosomes in the GnomAD database, including 12,907 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 0.41 (12907 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.108

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.82).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.56 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: 0.409 AC: 62164 AN: 151812 Hom.: 12889 Cov.: 31

Gnomad AFR AF: 0.410

Gnomad AMI AF: 0.332

Gnomad AMR AF: 0.353

Gnomad ASJ AF: 0.490

Gnomad EAS AF: 0.576

Gnomad SAS AF: 0.491

Gnomad FIN AF: 0.411

Gnomad MID AF: 0.465

Gnomad NFE AF: 0.399

Gnomad OTH AF: 0.436

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

GnomAD4 genome AF: 0.409 AC: 62211 AN: 151930 Hom.: 12907 Cov.: 31 AF XY: 0.410 AC XY: 30421 AN XY: 74214

Gnomad4 AFR AF: 0.410

Gnomad4 AMR AF: 0.353

Gnomad4 ASJ AF: 0.490

Gnomad4 EAS AF: 0.577

Gnomad4 SAS AF: 0.491

Gnomad4 FIN AF: 0.411

Gnomad4 NFE AF: 0.399

Gnomad4 OTH AF: 0.438

Alfa AF: 0.388 Hom.: 11237

Bravo AF: 0.406

Asia WGS AF: 0.479 AC: 1664 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.82
CADD	Benign	7.5
DANN	Benign	0.76

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs6994992; hg19: chr8-31495581;