rs11731185

Variant names:

• chr4-176202699-A-C
• rs11731185

Your query was ambiguous. Multiple possible variants found:

• chr4-176202699-A-C
• chr4-176202699-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 0.303 in 151,740 control chromosomes in the GnomAD database, including 7,098 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 0.30 (7098 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.22
• Publications: 1 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.98).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.347 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: 0.303 AC: 46012 AN: 151624 Hom.: 7094 Cov.: 30

Gnomad AFR AF: 0.253

Gnomad AMI AF: 0.433

Gnomad AMR AF: 0.356

Gnomad ASJ AF: 0.315

Gnomad EAS AF: 0.245

Gnomad SAS AF: 0.265

Gnomad FIN AF: 0.269

Gnomad MID AF: 0.259

Gnomad NFE AF: 0.332

Gnomad OTH AF: 0.314

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

GnomAD4 genome AF: 0.303 AC: 46036 AN: 151740 Hom.: 7098 Cov.: 30 AF XY: 0.299 AC XY: 22151 AN XY: 74134

African (AFR) AF: 0.253 AC: 10483 AN: 41390

American (AMR) AF: 0.355 AC: 5405 AN: 15216

Ashkenazi Jewish (ASJ) AF: 0.315 AC: 1090 AN: 3458

East Asian (EAS) AF: 0.246 AC: 1268 AN: 5156

South Asian (SAS) AF: 0.265 AC: 1272 AN: 4808

European-Finnish (FIN) AF: 0.269 AC: 2816 AN: 10472

Middle Eastern (MID) AF: 0.248 AC: 73 AN: 294

European-Non Finnish (NFE) AF: 0.332 AC: 22579 AN: 67928

Other (OTH) AF: 0.311 AC: 656 AN: 2108

Alfa AF: 0.325 Hom.: 33205

Bravo AF: 0.314

Asia WGS AF: 0.239 AC: 834 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
CADD	Benign	1.0
DANN	Benign	0.66
PhyloP100		-1.2

Splicing

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

Other links and lift over

dbSNP: rs11731185; hg19: chr4-177123850;