rs7938161

Variant names:

• chr11-5192046-A-G
• rs7938161

Your query was ambiguous. Multiple possible variants found:

• chr11-5192046-A-G
• chr11-5192046-A-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 0.46 in 151,922 control chromosomes in the GnomAD database, including 17,958 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 0.46 (17958 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.135

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 (EAS) allele frequency at 95% confidence interval = 0.728 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: 0.460 AC: 69895 AN: 151804 Hom.: 17955 Cov.: 32

Gnomad AFR AF: 0.220

Gnomad AMI AF: 0.530

Gnomad AMR AF: 0.572

Gnomad ASJ AF: 0.514

Gnomad EAS AF: 0.748

Gnomad SAS AF: 0.531

Gnomad FIN AF: 0.540

Gnomad MID AF: 0.446

Gnomad NFE AF: 0.538

Gnomad OTH AF: 0.480

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

GnomAD4 genome AF: 0.460 AC: 69904 AN: 151922 Hom.: 17958 Cov.: 32 AF XY: 0.465 AC XY: 34540 AN XY: 74260

Gnomad4 AFR AF: 0.220

Gnomad4 AMR AF: 0.573

Gnomad4 ASJ AF: 0.514

Gnomad4 EAS AF: 0.748

Gnomad4 SAS AF: 0.528

Gnomad4 FIN AF: 0.540

Gnomad4 NFE AF: 0.538

Gnomad4 OTH AF: 0.477

Alfa AF: 0.502 Hom.: 3398

Bravo AF: 0.451

Asia WGS AF: 0.584 AC: 2033 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	1.1
DANN	Benign	0.42

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7938161; hg19: chr11-5213276;