rs7932938

Variant names:

• chr11-18793748-T-G
• rs7932938

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 0.469 in 152,028 control chromosomes in the GnomAD database, including 17,230 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 0.47 (17230 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.745

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.88).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.522 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: 0.469 AC: 71253 AN: 151910 Hom.: 17235 Cov.: 32

Gnomad AFR AF: 0.387

Gnomad AMI AF: 0.549

Gnomad AMR AF: 0.487

Gnomad ASJ AF: 0.380

Gnomad EAS AF: 0.269

Gnomad SAS AF: 0.414

Gnomad FIN AF: 0.549

Gnomad MID AF: 0.415

Gnomad NFE AF: 0.526

Gnomad OTH AF: 0.444

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

GnomAD4 genome AF: 0.469 AC: 71269 AN: 152028 Hom.: 17230 Cov.: 32 AF XY: 0.467 AC XY: 34679 AN XY: 74312

Gnomad4 AFR AF: 0.386

Gnomad4 AMR AF: 0.487

Gnomad4 ASJ AF: 0.380

Gnomad4 EAS AF: 0.270

Gnomad4 SAS AF: 0.412

Gnomad4 FIN AF: 0.549

Gnomad4 NFE AF: 0.526

Gnomad4 OTH AF: 0.443

Alfa AF: 0.506 Hom.: 39176

Bravo AF: 0.460

Asia WGS AF: 0.354 AC: 1233 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.88
CADD	Benign	12
DANN	Benign	0.67

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7932938; hg19: chr11-18815295;