rs7131332

Variant names:

• chr11-18273976-A-G
• rs7131332

Your query was ambiguous. Multiple possible variants found:

• chr11-18273976-A-G
• chr11-18273976-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 0.425 in 151,994 control chromosomes in the GnomAD database, including 15,607 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 0.42 (15607 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0350
• Publications: 18 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 (AFR) allele frequency at 95% confidence interval = 0.665 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: 0.425 AC: 64494 AN: 151876 Hom.: 15568 Cov.: 31

Gnomad AFR AF: 0.671

Gnomad AMI AF: 0.313

Gnomad AMR AF: 0.334

Gnomad ASJ AF: 0.342

Gnomad EAS AF: 0.398

Gnomad SAS AF: 0.380

Gnomad FIN AF: 0.403

Gnomad MID AF: 0.323

Gnomad NFE AF: 0.311

Gnomad OTH AF: 0.390

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

GnomAD4 genome AF: 0.425 AC: 64587 AN: 151994 Hom.: 15607 Cov.: 31 AF XY: 0.424 AC XY: 31535 AN XY: 74292

African (AFR) AF: 0.672 AC: 27842 AN: 41462

American (AMR) AF: 0.334 AC: 5105 AN: 15262

Ashkenazi Jewish (ASJ) AF: 0.342 AC: 1186 AN: 3470

East Asian (EAS) AF: 0.399 AC: 2053 AN: 5150

South Asian (SAS) AF: 0.378 AC: 1822 AN: 4818

European-Finnish (FIN) AF: 0.403 AC: 4264 AN: 10568

Middle Eastern (MID) AF: 0.310 AC: 91 AN: 294

European-Non Finnish (NFE) AF: 0.311 AC: 21115 AN: 67956

Other (OTH) AF: 0.392 AC: 824 AN: 2104

Alfa AF: 0.321 Hom.: 2887

Bravo AF: 0.433

Asia WGS AF: 0.464 AC: 1611 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	2.6
DANN	Benign	0.37
PhyloP100		-0.035

Splicing

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

Other links and lift over

dbSNP: rs7131332; hg19: chr11-18295523;