rs13276133

Variant names:

• chr8-72943025-A-C
• rs13276133

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 0.286 in 151,948 control chromosomes in the GnomAD database, including 7,599 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 0.29 (7599 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.531
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.83).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.395 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: 0.287 AC: 43517 AN: 151830 Hom.: 7599 Cov.: 32

Gnomad AFR AF: 0.102

Gnomad AMI AF: 0.484

Gnomad AMR AF: 0.279

Gnomad ASJ AF: 0.314

Gnomad EAS AF: 0.0966

Gnomad SAS AF: 0.208

Gnomad FIN AF: 0.401

Gnomad MID AF: 0.288

Gnomad NFE AF: 0.399

Gnomad OTH AF: 0.292

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

GnomAD4 genome AF: 0.286 AC: 43527 AN: 151948 Hom.: 7599 Cov.: 32 AF XY: 0.285 AC XY: 21177 AN XY: 74256

African (AFR) AF: 0.102 AC: 4234 AN: 41486

American (AMR) AF: 0.279 AC: 4255 AN: 15244

Ashkenazi Jewish (ASJ) AF: 0.314 AC: 1089 AN: 3470

East Asian (EAS) AF: 0.0966 AC: 499 AN: 5166

South Asian (SAS) AF: 0.210 AC: 1013 AN: 4818

European-Finnish (FIN) AF: 0.401 AC: 4222 AN: 10516

Middle Eastern (MID) AF: 0.291 AC: 85 AN: 292

European-Non Finnish (NFE) AF: 0.399 AC: 27074 AN: 67934

Other (OTH) AF: 0.291 AC: 615 AN: 2110

Alfa AF: 0.328 Hom.: 1268

Bravo AF: 0.270

Asia WGS AF: 0.204 AC: 707 AN: 3472

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.83
CADD	Benign	6.7
DANN	Benign	0.66
PhyloP100		0.53

Splicing

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

Other links and lift over

dbSNP: rs13276133; hg19: chr8-73855260;