rs7937815

Positions:

• chr11-11760618-G-A
• chr11-11760618-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 0.524 in 151,788 control chromosomes in the GnomAD database, including 21,051 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 0.52 (21051 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.210

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.77).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.645 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.524 AC: 79509 AN: 151670 Hom.: 21023 Cov.: 31

Gnomad AFR AF: 0.456

Gnomad AMI AF: 0.459

Gnomad AMR AF: 0.630

Gnomad ASJ AF: 0.637

Gnomad EAS AF: 0.654

Gnomad SAS AF: 0.664

Gnomad FIN AF: 0.476

Gnomad MID AF: 0.703

Gnomad NFE AF: 0.523

Gnomad OTH AF: 0.545

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

GnomAD4 genome AF: 0.524 AC: 79586 AN: 151788 Hom.: 21051 Cov.: 31 AF XY: 0.529 AC XY: 39245 AN XY: 74136

Gnomad4 AFR AF: 0.456

Gnomad4 AMR AF: 0.630

Gnomad4 ASJ AF: 0.637

Gnomad4 EAS AF: 0.654

Gnomad4 SAS AF: 0.664

Gnomad4 FIN AF: 0.476

Gnomad4 NFE AF: 0.523

Gnomad4 OTH AF: 0.551

Alfa AF: 0.514 Hom.: 2467

Bravo AF: 0.527

Asia WGS AF: 0.644 AC: 2241 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.77
CADD	Benign	6.9
DANN	Benign	0.80

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7937815; hg19: chr11-11782165;