8-63273002-T-C

Variant names:

• chr8-63273002-T-C
• rs6991229

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 0.129 in 152,096 control chromosomes in the GnomAD database, including 1,514 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 0.13 (1514 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.622
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.284 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: 0.129 AC: 19604 AN: 151978 Hom.: 1512 Cov.: 32

Gnomad AFR AF: 0.191

Gnomad AMI AF: 0.0319

Gnomad AMR AF: 0.150

Gnomad ASJ AF: 0.0801

Gnomad EAS AF: 0.297

Gnomad SAS AF: 0.107

Gnomad FIN AF: 0.101

Gnomad MID AF: 0.187

Gnomad NFE AF: 0.0834

Gnomad OTH AF: 0.126

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

GnomAD4 genome AF: 0.129 AC: 19630 AN: 152096 Hom.: 1514 Cov.: 32 AF XY: 0.130 AC XY: 9659 AN XY: 74376

African (AFR) AF: 0.191 AC: 7928 AN: 41446

American (AMR) AF: 0.150 AC: 2290 AN: 15292

Ashkenazi Jewish (ASJ) AF: 0.0801 AC: 278 AN: 3470

East Asian (EAS) AF: 0.296 AC: 1523 AN: 5144

South Asian (SAS) AF: 0.106 AC: 513 AN: 4818

European-Finnish (FIN) AF: 0.101 AC: 1066 AN: 10604

Middle Eastern (MID) AF: 0.194 AC: 57 AN: 294

European-Non Finnish (NFE) AF: 0.0835 AC: 5676 AN: 68012

Other (OTH) AF: 0.128 AC: 270 AN: 2106

Alfa AF: 0.0973 Hom.: 1386

Bravo AF: 0.134

Asia WGS AF: 0.228 AC: 792 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	2.2
DANN	Benign	0.51
PhyloP100		-0.62

Splicing

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

Other links and lift over

dbSNP: rs6991229; hg19: chr8-64185560;