8-81599306-G-T

Variant names:

• chr8-81599306-G-T
• rs7017336

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 0.1 in 117,322 control chromosomes in the GnomAD database, including 702 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 0.10 (702 hom., cov: 24)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.171
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.95).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.202 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt

Frequencies

GnomAD3 genomes AF: 0.100 AC: 11765 AN: 117228 Hom.: 702 Cov.: 24

Gnomad AFR AF: 0.206

Gnomad AMI AF: 0.0630

Gnomad AMR AF: 0.0490

Gnomad ASJ AF: 0.0416

Gnomad EAS AF: 0.156

Gnomad SAS AF: 0.0706

Gnomad FIN AF: 0.0443

Gnomad MID AF: 0.00909

Gnomad NFE AF: 0.0559

Gnomad OTH AF: 0.0918

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

GnomAD4 genome AF: 0.100 AC: 11773 AN: 117322 Hom.: 702 Cov.: 24 AF XY: 0.0974 AC XY: 5577 AN XY: 57252

African (AFR) AF: 0.206 AC: 6658 AN: 32346

American (AMR) AF: 0.0488 AC: 617 AN: 12646

Ashkenazi Jewish (ASJ) AF: 0.0416 AC: 102 AN: 2450

East Asian (EAS) AF: 0.157 AC: 719 AN: 4594

South Asian (SAS) AF: 0.0707 AC: 301 AN: 4256

European-Finnish (FIN) AF: 0.0443 AC: 301 AN: 6800

Middle Eastern (MID) AF: 0.00472 AC: 1 AN: 212

European-Non Finnish (NFE) AF: 0.0558 AC: 2888 AN: 51760

Other (OTH) AF: 0.0907 AC: 143 AN: 1576

Alfa AF: 0.0486 Hom.: 231

Bravo AF: 0.0843

Asia WGS AF: 0.0960 AC: 332 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
CADD	Benign	2.4
DANN	Benign	0.20
PhyloP100		0.17

Splicing

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

Other links and lift over

dbSNP: rs7017336; hg19: chr8-82511541;