rs6563247

Variant names:

• chr13-81658797-G-A
• rs6563247

Your query was ambiguous. Multiple possible variants found:

• chr13-81658797-G-A
• chr13-81658797-G-C

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 0.631 in 151,968 control chromosomes in the GnomAD database, including 30,619 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 0.63 (30619 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.356
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.85).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.829 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: 0.631 AC: 95870 AN: 151848 Hom.: 30586 Cov.: 32

Gnomad AFR AF: 0.597

Gnomad AMI AF: 0.698

Gnomad AMR AF: 0.623

Gnomad ASJ AF: 0.699

Gnomad EAS AF: 0.538

Gnomad SAS AF: 0.851

Gnomad FIN AF: 0.600

Gnomad MID AF: 0.631

Gnomad NFE AF: 0.646

Gnomad OTH AF: 0.637

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

GnomAD4 genome AF: 0.631 AC: 95960 AN: 151968 Hom.: 30619 Cov.: 32 AF XY: 0.634 AC XY: 47067 AN XY: 74272

African (AFR) AF: 0.597 AC: 24779 AN: 41474

American (AMR) AF: 0.624 AC: 9522 AN: 15270

Ashkenazi Jewish (ASJ) AF: 0.699 AC: 2422 AN: 3464

East Asian (EAS) AF: 0.537 AC: 2766 AN: 5150

South Asian (SAS) AF: 0.851 AC: 4100 AN: 4820

European-Finnish (FIN) AF: 0.600 AC: 6324 AN: 10538

Middle Eastern (MID) AF: 0.627 AC: 183 AN: 292

European-Non Finnish (NFE) AF: 0.646 AC: 43891 AN: 67942

Other (OTH) AF: 0.635 AC: 1339 AN: 2110

Alfa AF: 0.605 Hom.: 7911

Bravo AF: 0.627

Asia WGS AF: 0.696 AC: 2421 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.85
CADD	Benign	5.7
DANN	Benign	0.21
PhyloP100		0.36

Splicing

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

Other links and lift over

dbSNP: rs6563247; hg19: chr13-82232932;