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. Variant got -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

ACMG classification

Verdict is Benign. Variant got -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

Gnomad4 AFR AF: 0.371

Gnomad4 AMR AF: 0.533

Gnomad4 ASJ AF: 0.451

Gnomad4 EAS AF: 0.781

Gnomad4 SAS AF: 0.654

Gnomad4 FIN AF: 0.567

Gnomad4 NFE AF: 0.476

Gnomad4 OTH AF: 0.479

Alfa AF: 0.454 Hom.: 12004

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs11632715; hg19: chr15-33004247;