rs11632814

Variant names:

• chr15-74740150-G-A
• rs11632814

Your query was ambiguous. Multiple possible variants found:

• chr15-74740150-G-A
• chr15-74740150-G-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 0.055 in 152,200 control chromosomes in the GnomAD database, including 353 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 0.055 (353 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.766
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.96).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.109 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: 0.0550 AC: 8371 AN: 152082 Hom.: 351 Cov.: 31

Gnomad AFR AF: 0.111

Gnomad AMI AF: 0.0230

Gnomad AMR AF: 0.0358

Gnomad ASJ AF: 0.0576

Gnomad EAS AF: 0.0794

Gnomad SAS AF: 0.0864

Gnomad FIN AF: 0.0486

Gnomad MID AF: 0.0633

Gnomad NFE AF: 0.0225

Gnomad OTH AF: 0.0468

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

GnomAD4 genome AF: 0.0550 AC: 8378 AN: 152200 Hom.: 353 Cov.: 31 AF XY: 0.0564 AC XY: 4197 AN XY: 74396

African (AFR) AF: 0.111 AC: 4620 AN: 41508

American (AMR) AF: 0.0357 AC: 546 AN: 15298

Ashkenazi Jewish (ASJ) AF: 0.0576 AC: 200 AN: 3470

East Asian (EAS) AF: 0.0786 AC: 407 AN: 5176

South Asian (SAS) AF: 0.0871 AC: 420 AN: 4820

European-Finnish (FIN) AF: 0.0486 AC: 515 AN: 10592

Middle Eastern (MID) AF: 0.0646 AC: 19 AN: 294

European-Non Finnish (NFE) AF: 0.0225 AC: 1532 AN: 68014

Other (OTH) AF: 0.0463 AC: 98 AN: 2116

Alfa AF: 0.0444 Hom.: 28

Bravo AF: 0.0550

Asia WGS AF: 0.0750 AC: 261 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	0.56
DANN	Benign	0.58
PhyloP100		-0.77

Splicing

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

Other links and lift over

dbSNP: rs11632814; hg19: chr15-75032491;