rs7836491

Variant names:

• chr8-79439552-C-A
• rs7836491

Variant summary

Our verdict is Benign. The variant received -10 ACMG points: 0P and 10B. BP4_Moderate BA1

The variant allele was found at a frequency of 0.107 in 152,226 control chromosomes in the GnomAD database, including 974 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 0.11 (974 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0100
• Publications: 2 publications found

ACMG classification

Our verdict: Benign. The variant received -10 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.37).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.192 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.108 AC: 16358 AN: 152108 Hom.: 977 Cov.: 32

Gnomad AFR AF: 0.0878

Gnomad AMI AF: 0.0932

Gnomad AMR AF: 0.0927

Gnomad ASJ AF: 0.189

Gnomad EAS AF: 0.0974

Gnomad SAS AF: 0.203

Gnomad FIN AF: 0.0935

Gnomad MID AF: 0.111

Gnomad NFE AF: 0.114

Gnomad OTH AF: 0.129

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

GnomAD4 genome AF: 0.107 AC: 16352 AN: 152226 Hom.: 974 Cov.: 32 AF XY: 0.107 AC XY: 7967 AN XY: 74438

African (AFR) AF: 0.0875 AC: 3635 AN: 41522

American (AMR) AF: 0.0925 AC: 1416 AN: 15302

Ashkenazi Jewish (ASJ) AF: 0.189 AC: 654 AN: 3468

East Asian (EAS) AF: 0.0974 AC: 505 AN: 5184

South Asian (SAS) AF: 0.202 AC: 976 AN: 4820

European-Finnish (FIN) AF: 0.0935 AC: 992 AN: 10604

Middle Eastern (MID) AF: 0.109 AC: 32 AN: 294

European-Non Finnish (NFE) AF: 0.114 AC: 7779 AN: 68008

Other (OTH) AF: 0.132 AC: 278 AN: 2112

Alfa AF: 0.111 Hom.: 2595

Bravo AF: 0.104

Asia WGS AF: 0.163 AC: 566 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.37
CADD	Benign	3.9
DANN	Benign	0.74
PhyloP100		0.010

Splicing

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

Other links and lift over

dbSNP: rs7836491; hg19: chr8-80351787;