rs11634947

Variant names:

• chr15-49705019-C-G
• rs11634947

Your query was ambiguous. Multiple possible variants found:

• chr15-49705019-C-G
• chr15-49705019-C-T

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 0.255 in 152,076 control chromosomes in the GnomAD database, including 5,954 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 0.26 (5954 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.432
• Publications: 0 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 (NFE) allele frequency at 95% confidence interval = 0.35 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: 0.255 AC: 38810 AN: 151958 Hom.: 5954 Cov.: 33

Gnomad AFR AF: 0.0862

Gnomad AMI AF: 0.502

Gnomad AMR AF: 0.252

Gnomad ASJ AF: 0.355

Gnomad EAS AF: 0.189

Gnomad SAS AF: 0.207

Gnomad FIN AF: 0.290

Gnomad MID AF: 0.263

Gnomad NFE AF: 0.353

Gnomad OTH AF: 0.276

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

GnomAD4 genome AF: 0.255 AC: 38795 AN: 152076 Hom.: 5954 Cov.: 33 AF XY: 0.252 AC XY: 18728 AN XY: 74322

African (AFR) AF: 0.0860 AC: 3571 AN: 41514

American (AMR) AF: 0.251 AC: 3836 AN: 15268

Ashkenazi Jewish (ASJ) AF: 0.355 AC: 1230 AN: 3468

East Asian (EAS) AF: 0.190 AC: 982 AN: 5172

South Asian (SAS) AF: 0.206 AC: 992 AN: 4816

European-Finnish (FIN) AF: 0.290 AC: 3061 AN: 10552

Middle Eastern (MID) AF: 0.252 AC: 74 AN: 294

European-Non Finnish (NFE) AF: 0.353 AC: 24022 AN: 67978

Other (OTH) AF: 0.271 AC: 572 AN: 2108

Alfa AF: 0.287 Hom.: 886

Bravo AF: 0.243

Asia WGS AF: 0.183 AC: 637 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	1.2
DANN	Benign	0.53
PhyloP100		-0.43

Splicing

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

Other links and lift over

dbSNP: rs11634947; hg19: chr15-49997216;