rs7947387

Variant names:

• chr11-38924616-G-A
• rs7947387

Your query was ambiguous. Multiple possible variants found:

• chr11-38924616-G-A
• chr11-38924616-G-C

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 0.039 in 151,814 control chromosomes in the GnomAD database, including 168 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 0.039 (168 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.608

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.96).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.0582 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: 0.0390 AC: 5921 AN: 151696 Hom.: 169 Cov.: 32

Gnomad AFR AF: 0.0117

Gnomad AMI AF: 0.105

Gnomad AMR AF: 0.0391

Gnomad ASJ AF: 0.0736

Gnomad EAS AF: 0.000387

Gnomad SAS AF: 0.0144

Gnomad FIN AF: 0.0225

Gnomad MID AF: 0.0665

Gnomad NFE AF: 0.0597

Gnomad OTH AF: 0.0503

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

GnomAD4 genome AF: 0.0390 AC: 5914 AN: 151814 Hom.: 168 Cov.: 32 AF XY: 0.0370 AC XY: 2744 AN XY: 74200

Gnomad4 AFR AF: 0.0117

Gnomad4 AMR AF: 0.0391

Gnomad4 ASJ AF: 0.0736

Gnomad4 EAS AF: 0.000388

Gnomad4 SAS AF: 0.0140

Gnomad4 FIN AF: 0.0225

Gnomad4 NFE AF: 0.0597

Gnomad4 OTH AF: 0.0498

Alfa AF: 0.0187 Hom.: 7

Bravo AF: 0.0400

Asia WGS AF: 0.00751 AC: 26 AN: 3474

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	0.77
DANN	Benign	0.76

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7947387; hg19: chr11-38946166;