8-119536437-A-G

Variant names:

• chr8-119536437-A-G
• rs11782176

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 0.409 in 151,906 control chromosomes in the GnomAD database, including 13,401 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 0.41 (13401 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 2.03
• Publications: 4 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.564 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: 0.409 AC: 62141 AN: 151788 Hom.: 13401 Cov.: 31

Gnomad AFR AF: 0.289

Gnomad AMI AF: 0.533

Gnomad AMR AF: 0.478

Gnomad ASJ AF: 0.438

Gnomad EAS AF: 0.336

Gnomad SAS AF: 0.582

Gnomad FIN AF: 0.518

Gnomad MID AF: 0.380

Gnomad NFE AF: 0.440

Gnomad OTH AF: 0.410

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

GnomAD4 genome AF: 0.409 AC: 62168 AN: 151906 Hom.: 13401 Cov.: 31 AF XY: 0.417 AC XY: 30977 AN XY: 74236

African (AFR) AF: 0.289 AC: 11976 AN: 41442

American (AMR) AF: 0.478 AC: 7298 AN: 15262

Ashkenazi Jewish (ASJ) AF: 0.438 AC: 1521 AN: 3470

East Asian (EAS) AF: 0.337 AC: 1727 AN: 5124

South Asian (SAS) AF: 0.582 AC: 2798 AN: 4808

European-Finnish (FIN) AF: 0.518 AC: 5464 AN: 10544

Middle Eastern (MID) AF: 0.371 AC: 109 AN: 294

European-Non Finnish (NFE) AF: 0.440 AC: 29918 AN: 67942

Other (OTH) AF: 0.413 AC: 874 AN: 2114

Alfa AF: 0.440 Hom.: 16727

Bravo AF: 0.396

Asia WGS AF: 0.488 AC: 1696 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	5.1
DANN	Benign	0.57
PhyloP100		2.0

Splicing

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

Other links and lift over

dbSNP: rs11782176; hg19: chr8-120548677;