rs11737432

Variant names:

• chr4-28766154-G-A
• rs11737432

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 0.0697 in 152,004 control chromosomes in the GnomAD database, including 487 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 0.070 (487 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.631
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.0).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.103 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: 0.0697 AC: 10588 AN: 151886 Hom.: 487 Cov.: 32

Gnomad AFR AF: 0.0200

Gnomad AMI AF: 0.125

Gnomad AMR AF: 0.0701

Gnomad ASJ AF: 0.0996

Gnomad EAS AF: 0.0153

Gnomad SAS AF: 0.0768

Gnomad FIN AF: 0.0417

Gnomad MID AF: 0.0918

Gnomad NFE AF: 0.105

Gnomad OTH AF: 0.0867

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

GnomAD4 genome AF: 0.0697 AC: 10588 AN: 152004 Hom.: 487 Cov.: 32 AF XY: 0.0674 AC XY: 5007 AN XY: 74314

African (AFR) AF: 0.0200 AC: 828 AN: 41482

American (AMR) AF: 0.0699 AC: 1064 AN: 15232

Ashkenazi Jewish (ASJ) AF: 0.0996 AC: 345 AN: 3464

East Asian (EAS) AF: 0.0155 AC: 80 AN: 5168

South Asian (SAS) AF: 0.0773 AC: 372 AN: 4812

European-Finnish (FIN) AF: 0.0417 AC: 441 AN: 10580

Middle Eastern (MID) AF: 0.0850 AC: 25 AN: 294

European-Non Finnish (NFE) AF: 0.105 AC: 7139 AN: 67952

Other (OTH) AF: 0.0853 AC: 180 AN: 2110

Alfa AF: 0.0797 Hom.: 76

Bravo AF: 0.0716

Asia WGS AF: 0.0370 AC: 129 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.68
DANN	Benign	0.53
PhyloP100		-0.63

Splicing

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

Other links and lift over

dbSNP: rs11737432; hg19: chr4-28767776;