rs11736136

Variant names:

• chr4-82097121-A-G
• rs11736136

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 0.143 in 152,258 control chromosomes in the GnomAD database, including 1,664 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 0.14 (1664 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.44
• Publications: 0 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.189 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: 0.143 AC: 21726 AN: 152140 Hom.: 1666 Cov.: 32

Gnomad AFR AF: 0.192

Gnomad AMI AF: 0.156

Gnomad AMR AF: 0.178

Gnomad ASJ AF: 0.116

Gnomad EAS AF: 0.0556

Gnomad SAS AF: 0.0861

Gnomad FIN AF: 0.118

Gnomad MID AF: 0.120

Gnomad NFE AF: 0.121

Gnomad OTH AF: 0.138

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

GnomAD4 genome AF: 0.143 AC: 21736 AN: 152258 Hom.: 1664 Cov.: 32 AF XY: 0.142 AC XY: 10586 AN XY: 74456

African (AFR) AF: 0.192 AC: 7978 AN: 41540

American (AMR) AF: 0.179 AC: 2731 AN: 15290

Ashkenazi Jewish (ASJ) AF: 0.116 AC: 402 AN: 3470

East Asian (EAS) AF: 0.0557 AC: 289 AN: 5186

South Asian (SAS) AF: 0.0856 AC: 413 AN: 4826

European-Finnish (FIN) AF: 0.118 AC: 1250 AN: 10614

Middle Eastern (MID) AF: 0.126 AC: 37 AN: 294

European-Non Finnish (NFE) AF: 0.121 AC: 8209 AN: 68010

Other (OTH) AF: 0.135 AC: 285 AN: 2116

Alfa AF: 0.154 Hom.: 629

Bravo AF: 0.153

Asia WGS AF: 0.0750 AC: 262 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	0.091
DANN	Benign	0.39
PhyloP100		-1.4

Splicing

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

Other links and lift over

dbSNP: rs11736136; hg19: chr4-83018274;