rs762635

Variant names:

• chr13-113105172-A-C
• rs762635

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.207 in 151,894 control chromosomes in the GnomAD database, including 3,819 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 0.21 (3819 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.560

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.49).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.434 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: 0.207 AC: 31406 AN: 151776 Hom.: 3809 Cov.: 30

Gnomad AFR AF: 0.104

Gnomad AMI AF: 0.258

Gnomad AMR AF: 0.256

Gnomad ASJ AF: 0.0758

Gnomad EAS AF: 0.450

Gnomad SAS AF: 0.156

Gnomad FIN AF: 0.323

Gnomad MID AF: 0.136

Gnomad NFE AF: 0.232

Gnomad OTH AF: 0.189

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

GnomAD4 genome AF: 0.207 AC: 31436 AN: 151894 Hom.: 3819 Cov.: 30 AF XY: 0.211 AC XY: 15688 AN XY: 74246

Gnomad4 AFR AF: 0.105

Gnomad4 AMR AF: 0.257

Gnomad4 ASJ AF: 0.0758

Gnomad4 EAS AF: 0.449

Gnomad4 SAS AF: 0.156

Gnomad4 FIN AF: 0.323

Gnomad4 NFE AF: 0.232

Gnomad4 OTH AF: 0.186

Alfa AF: 0.214 Hom.: 423

Bravo AF: 0.204

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.49
CADD	Benign	12
DANN	Benign	0.93

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs762635; hg19: chr13-113759486;