rs10836588

Variant names:

• chr11-36692087-C-T
• rs10836588

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 0.453 in 151,958 control chromosomes in the GnomAD database, including 17,907 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 0.45 (17907 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0200
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.86).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.591 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.453 AC: 68751 AN: 151838 Hom.: 17907 Cov.: 31

Gnomad AFR AF: 0.219

Gnomad AMI AF: 0.400

Gnomad AMR AF: 0.363

Gnomad ASJ AF: 0.573

Gnomad EAS AF: 0.209

Gnomad SAS AF: 0.502

Gnomad FIN AF: 0.636

Gnomad MID AF: 0.497

Gnomad NFE AF: 0.596

Gnomad OTH AF: 0.453

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

GnomAD4 genome AF: 0.453 AC: 68768 AN: 151958 Hom.: 17907 Cov.: 31 AF XY: 0.450 AC XY: 33408 AN XY: 74272

African (AFR) AF: 0.219 AC: 9076 AN: 41446

American (AMR) AF: 0.362 AC: 5532 AN: 15280

Ashkenazi Jewish (ASJ) AF: 0.573 AC: 1986 AN: 3466

East Asian (EAS) AF: 0.209 AC: 1079 AN: 5166

South Asian (SAS) AF: 0.502 AC: 2414 AN: 4804

European-Finnish (FIN) AF: 0.636 AC: 6706 AN: 10548

Middle Eastern (MID) AF: 0.500 AC: 147 AN: 294

European-Non Finnish (NFE) AF: 0.596 AC: 40512 AN: 67938

Other (OTH) AF: 0.452 AC: 952 AN: 2106

Alfa AF: 0.464 Hom.: 9555

Bravo AF: 0.417

Asia WGS AF: 0.336 AC: 1169 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.86
CADD	Benign	2.4
DANN	Benign	0.49
PhyloP100		0.020

Splicing

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

Other links and lift over

dbSNP: rs10836588; hg19: chr11-36713637;