8-41315063-G-C

Variant names:

• chr8-41315063-G-C
• rs4736965

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 0.861 in 152,180 control chromosomes in the GnomAD database, including 56,750 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 0.86 (56750 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.665
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.94).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.976 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: 0.861 AC: 130959 AN: 152062 Hom.: 56688 Cov.: 32

Gnomad AFR AF: 0.943

Gnomad AMI AF: 0.743

Gnomad AMR AF: 0.843

Gnomad ASJ AF: 0.811

Gnomad EAS AF: 0.999

Gnomad SAS AF: 0.902

Gnomad FIN AF: 0.859

Gnomad MID AF: 0.791

Gnomad NFE AF: 0.808

Gnomad OTH AF: 0.843

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

GnomAD4 genome AF: 0.861 AC: 131081 AN: 152180 Hom.: 56750 Cov.: 32 AF XY: 0.863 AC XY: 64236 AN XY: 74398

African (AFR) AF: 0.943 AC: 39167 AN: 41534

American (AMR) AF: 0.843 AC: 12895 AN: 15288

Ashkenazi Jewish (ASJ) AF: 0.811 AC: 2815 AN: 3472

East Asian (EAS) AF: 0.999 AC: 5180 AN: 5186

South Asian (SAS) AF: 0.901 AC: 4332 AN: 4808

European-Finnish (FIN) AF: 0.859 AC: 9085 AN: 10582

Middle Eastern (MID) AF: 0.796 AC: 234 AN: 294

European-Non Finnish (NFE) AF: 0.808 AC: 54910 AN: 67990

Other (OTH) AF: 0.844 AC: 1785 AN: 2114

Alfa AF: 0.796 Hom.: 2459

Bravo AF: 0.862

Asia WGS AF: 0.945 AC: 3286 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	0.38
DANN	Benign	0.30
PhyloP100		-0.67

Splicing

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

Other links and lift over

dbSNP: rs4736965; hg19: chr8-41172582;