rs11737226

Variant names:

• chr4-154521094-G-A
• rs11737226

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 0.643 in 151,964 control chromosomes in the GnomAD database, including 31,670 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 0.64 (31670 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.981
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.85).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.673 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: 0.643 AC: 97628 AN: 151846 Hom.: 31650 Cov.: 32

Gnomad AFR AF: 0.616

Gnomad AMI AF: 0.638

Gnomad AMR AF: 0.660

Gnomad ASJ AF: 0.601

Gnomad EAS AF: 0.441

Gnomad SAS AF: 0.598

Gnomad FIN AF: 0.625

Gnomad MID AF: 0.693

Gnomad NFE AF: 0.678

Gnomad OTH AF: 0.659

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

GnomAD4 genome AF: 0.643 AC: 97692 AN: 151964 Hom.: 31670 Cov.: 32 AF XY: 0.639 AC XY: 47416 AN XY: 74252

African (AFR) AF: 0.616 AC: 25535 AN: 41452

American (AMR) AF: 0.660 AC: 10085 AN: 15272

Ashkenazi Jewish (ASJ) AF: 0.601 AC: 2083 AN: 3464

East Asian (EAS) AF: 0.441 AC: 2276 AN: 5156

South Asian (SAS) AF: 0.597 AC: 2876 AN: 4816

European-Finnish (FIN) AF: 0.625 AC: 6586 AN: 10530

Middle Eastern (MID) AF: 0.704 AC: 207 AN: 294

European-Non Finnish (NFE) AF: 0.678 AC: 46070 AN: 67958

Other (OTH) AF: 0.660 AC: 1393 AN: 2112

Alfa AF: 0.665 Hom.: 99667

Bravo AF: 0.645

Asia WGS AF: 0.553 AC: 1921 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.85
CADD	Benign	0.34
DANN	Benign	0.66
PhyloP100		-0.98

Splicing

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

Other links and lift over

dbSNP: rs11737226; hg19: chr4-155442246;