rs7937649

Variant names:

• chr11-5201149-G-A
• rs7937649

Your query was ambiguous. Multiple possible variants found:

• chr11-5201149-G-A
• chr11-5201149-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 0.71 in 151,958 control chromosomes in the GnomAD database, including 39,711 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 0.71 (39711 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.18

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 (NFE) allele frequency at 95% confidence interval = 0.821 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: 0.710 AC: 107816 AN: 151840 Hom.: 39700 Cov.: 32

Gnomad AFR AF: 0.529

Gnomad AMI AF: 0.940

Gnomad AMR AF: 0.679

Gnomad ASJ AF: 0.859

Gnomad EAS AF: 0.504

Gnomad SAS AF: 0.612

Gnomad FIN AF: 0.776

Gnomad MID AF: 0.845

Gnomad NFE AF: 0.827

Gnomad OTH AF: 0.749

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

GnomAD4 genome AF: 0.710 AC: 107868 AN: 151958 Hom.: 39711 Cov.: 32 AF XY: 0.705 AC XY: 52366 AN XY: 74286

Gnomad4 AFR AF: 0.528

Gnomad4 AMR AF: 0.679

Gnomad4 ASJ AF: 0.859

Gnomad4 EAS AF: 0.504

Gnomad4 SAS AF: 0.614

Gnomad4 FIN AF: 0.776

Gnomad4 NFE AF: 0.827

Gnomad4 OTH AF: 0.747

Alfa AF: 0.740 Hom.: 7085

Bravo AF: 0.694

Asia WGS AF: 0.555 AC: 1933 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	0.78
DANN	Benign	0.69

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7937649; hg19: chr11-5222379;