rs11632715

Variant names:

• chr15-32712046-G-A
• rs11632715

Your query was ambiguous. Multiple possible variants found:

• chr15-32712046-G-A
• chr15-32712046-G-C
• chr15-32712046-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 0.476 in 148,798 control chromosomes in the GnomAD database, including 17,369 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 0.48 (17369 hom., cov: 25)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.185
• Publications: 44 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.761 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: 0.476 AC: 70762 AN: 148692 Hom.: 17367 Cov.: 25

Gnomad AFR AF: 0.371

Gnomad AMI AF: 0.578

Gnomad AMR AF: 0.533

Gnomad ASJ AF: 0.451

Gnomad EAS AF: 0.781

Gnomad SAS AF: 0.655

Gnomad FIN AF: 0.567

Gnomad MID AF: 0.493

Gnomad NFE AF: 0.476

Gnomad OTH AF: 0.477

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

GnomAD4 genome AF: 0.476 AC: 70800 AN: 148798 Hom.: 17369 Cov.: 25 AF XY: 0.484 AC XY: 35018 AN XY: 72342

African (AFR) AF: 0.371 AC: 14886 AN: 40098

American (AMR) AF: 0.533 AC: 7923 AN: 14856

Ashkenazi Jewish (ASJ) AF: 0.451 AC: 1560 AN: 3462

East Asian (EAS) AF: 0.781 AC: 3995 AN: 5116

South Asian (SAS) AF: 0.654 AC: 3086 AN: 4718

European-Finnish (FIN) AF: 0.567 AC: 5574 AN: 9828

Middle Eastern (MID) AF: 0.478 AC: 132 AN: 276

European-Non Finnish (NFE) AF: 0.476 AC: 32130 AN: 67472

Other (OTH) AF: 0.479 AC: 990 AN: 2066

Alfa AF: 0.468 Hom.: 23717

Bravo AF: 0.463

Asia WGS AF: 0.702 AC: 2436 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	4.3
DANN	Benign	0.77
PhyloP100		0.18

Splicing

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

Other links and lift over

dbSNP: rs11632715; hg19: chr15-33004247;