rs7336345

Variant names:

• chr13-82569872-C-A
• rs7336345

Your query was ambiguous. Multiple possible variants found:

• chr13-82569872-C-A
• chr13-82569872-C-G

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 0.266 in 151,812 control chromosomes in the GnomAD database, including 6,056 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 0.27 (6056 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.193
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.94).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.392 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: 0.266 AC: 40336 AN: 151694 Hom.: 6047 Cov.: 31

Gnomad AFR AF: 0.398

Gnomad AMI AF: 0.226

Gnomad AMR AF: 0.158

Gnomad ASJ AF: 0.138

Gnomad EAS AF: 0.355

Gnomad SAS AF: 0.230

Gnomad FIN AF: 0.277

Gnomad MID AF: 0.140

Gnomad NFE AF: 0.214

Gnomad OTH AF: 0.214

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

GnomAD4 genome AF: 0.266 AC: 40375 AN: 151812 Hom.: 6056 Cov.: 31 AF XY: 0.265 AC XY: 19626 AN XY: 74180

African (AFR) AF: 0.397 AC: 16452 AN: 41392

American (AMR) AF: 0.158 AC: 2409 AN: 15268

Ashkenazi Jewish (ASJ) AF: 0.138 AC: 479 AN: 3464

East Asian (EAS) AF: 0.355 AC: 1807 AN: 5094

South Asian (SAS) AF: 0.230 AC: 1108 AN: 4810

European-Finnish (FIN) AF: 0.277 AC: 2913 AN: 10534

Middle Eastern (MID) AF: 0.137 AC: 40 AN: 292

European-Non Finnish (NFE) AF: 0.214 AC: 14510 AN: 67938

Other (OTH) AF: 0.214 AC: 451 AN: 2108

Alfa AF: 0.237 Hom.: 842

Bravo AF: 0.259

Asia WGS AF: 0.267 AC: 928 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	1.9
DANN	Benign	0.35
PhyloP100		0.19

Splicing

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

Other links and lift over

dbSNP: rs7336345; hg19: chr13-83144007; COSMIC: COSV107152792;