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. The variant received -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
• Publications: 2 publications found

ACMG classification

Our verdict: Benign. The variant received -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.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

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

African (AFR) AF: 0.220 AC: 9109 AN: 41432

American (AMR) AF: 0.573 AC: 8745 AN: 15254

Ashkenazi Jewish (ASJ) AF: 0.514 AC: 1782 AN: 3464

East Asian (EAS) AF: 0.748 AC: 3857 AN: 5156

South Asian (SAS) AF: 0.528 AC: 2539 AN: 4806

European-Finnish (FIN) AF: 0.540 AC: 5691 AN: 10540

Middle Eastern (MID) AF: 0.432 AC: 127 AN: 294

European-Non Finnish (NFE) AF: 0.538 AC: 36568 AN: 67962

Other (OTH) AF: 0.477 AC: 1006 AN: 2108

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 v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	1.1
DANN	Benign	0.42
PhyloP100		-0.14

Splicing

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

Other links and lift over

dbSNP: rs7938161; hg19: chr11-5213276;