8-31638065-C-T

Variant names:

• chr8-31638065-C-T
• rs6994992

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 0.409 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
• Publications: 68 publications found

ACMG classification

Our verdict: Benign. The variant received -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.

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: 0.409 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

African (AFR) AF: 0.410 AC: 16981 AN: 41434

American (AMR) AF: 0.353 AC: 5391 AN: 15266

Ashkenazi Jewish (ASJ) AF: 0.490 AC: 1701 AN: 3470

East Asian (EAS) AF: 0.577 AC: 2965 AN: 5138

South Asian (SAS) AF: 0.491 AC: 2357 AN: 4802

European-Finnish (FIN) AF: 0.411 AC: 4335 AN: 10552

Middle Eastern (MID) AF: 0.476 AC: 140 AN: 294

European-Non Finnish (NFE) AF: 0.399 AC: 27118 AN: 67962

Other (OTH) AF: 0.438 AC: 920 AN: 2100

Alfa AF: 0.399 Hom.: 32010

Bravo AF: 0.406

Asia WGS AF: 0.479 AC: 1664 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.82
CADD	Benign	7.5
DANN	Benign	0.76
PhyloP100		0.11

Splicing

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

Other links and lift over

dbSNP: rs6994992; hg19: chr8-31495581;