rs7836491

chr8-79439552-C-A

Variant summary

Our verdict is Benign. Variant got -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

ACMG classification

Verdict is Benign. Variant got -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/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	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

Gnomad4 AFR AF: 0.0875

Gnomad4 AMR AF: 0.0925

Gnomad4 ASJ AF: 0.189

Gnomad4 EAS AF: 0.0974

Gnomad4 SAS AF: 0.202

Gnomad4 FIN AF: 0.0935

Gnomad4 NFE AF: 0.114

Gnomad4 OTH AF: 0.132

Alfa AF: 0.113 Hom.: 1025

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7836491; hg19: chr8-80351787;