chr11-37291939-A-G

Variant names:

• chr11-37291939-A-G
• rs7934426

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 0.36 in 151,810 control chromosomes in the GnomAD database, including 11,562 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 0.36 (11562 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.46
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.83).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.641 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: 0.360 AC: 54685 AN: 151692 Hom.: 11571 Cov.: 32

Gnomad AFR AF: 0.137

Gnomad AMI AF: 0.395

Gnomad AMR AF: 0.357

Gnomad ASJ AF: 0.433

Gnomad EAS AF: 0.569

Gnomad SAS AF: 0.661

Gnomad FIN AF: 0.438

Gnomad MID AF: 0.519

Gnomad NFE AF: 0.443

Gnomad OTH AF: 0.376

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

GnomAD4 genome AF: 0.360 AC: 54682 AN: 151810 Hom.: 11562 Cov.: 32 AF XY: 0.368 AC XY: 27300 AN XY: 74188

African (AFR) AF: 0.137 AC: 5696 AN: 41502

American (AMR) AF: 0.357 AC: 5427 AN: 15204

Ashkenazi Jewish (ASJ) AF: 0.433 AC: 1499 AN: 3464

East Asian (EAS) AF: 0.568 AC: 2922 AN: 5144

South Asian (SAS) AF: 0.660 AC: 3177 AN: 4816

European-Finnish (FIN) AF: 0.438 AC: 4615 AN: 10546

Middle Eastern (MID) AF: 0.500 AC: 145 AN: 290

European-Non Finnish (NFE) AF: 0.443 AC: 30040 AN: 67824

Other (OTH) AF: 0.380 AC: 802 AN: 2110

Alfa AF: 0.418 Hom.: 43710

Bravo AF: 0.340

Asia WGS AF: 0.614 AC: 2133 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.83
CADD	Benign	14
DANN	Benign	0.74
PhyloP100		1.5

Splicing

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

Other links and lift over

dbSNP: rs7934426; hg19: chr11-37313489;