rs10095649

Variant names:

• chr8-134152705-T-C
• rs10095649

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 0.214 in 152,072 control chromosomes in the GnomAD database, including 4,844 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 0.21 (4844 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.34
• Publications: 7 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.421 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.213 AC: 32425 AN: 151954 Hom.: 4834 Cov.: 32

Gnomad AFR AF: 0.426

Gnomad AMI AF: 0.0846

Gnomad AMR AF: 0.183

Gnomad ASJ AF: 0.130

Gnomad EAS AF: 0.168

Gnomad SAS AF: 0.139

Gnomad FIN AF: 0.0882

Gnomad MID AF: 0.199

Gnomad NFE AF: 0.126

Gnomad OTH AF: 0.195

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

GnomAD4 genome AF: 0.214 AC: 32470 AN: 152072 Hom.: 4844 Cov.: 32 AF XY: 0.210 AC XY: 15642 AN XY: 74348

African (AFR) AF: 0.426 AC: 17643 AN: 41422

American (AMR) AF: 0.183 AC: 2796 AN: 15274

Ashkenazi Jewish (ASJ) AF: 0.130 AC: 451 AN: 3472

East Asian (EAS) AF: 0.168 AC: 869 AN: 5176

South Asian (SAS) AF: 0.139 AC: 667 AN: 4810

European-Finnish (FIN) AF: 0.0882 AC: 935 AN: 10604

Middle Eastern (MID) AF: 0.204 AC: 60 AN: 294

European-Non Finnish (NFE) AF: 0.126 AC: 8563 AN: 67996

Other (OTH) AF: 0.193 AC: 409 AN: 2114

Alfa AF: 0.161 Hom.: 8356

Bravo AF: 0.230

Asia WGS AF: 0.169 AC: 588 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	0.068
DANN	Benign	0.52
PhyloP100		-1.3

Splicing

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

Other links and lift over

dbSNP: rs10095649; hg19: chr8-135164948;