rs10836588

Variant names:

• chr11-36692087-C-T
• rs10836588

Variant summary

Our verdict is Benign. Variant got -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

ACMG classification

Verdict is Benign. Variant got -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.

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: 0.453 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

Gnomad4 AFR AF: 0.219

Gnomad4 AMR AF: 0.362

Gnomad4 ASJ AF: 0.573

Gnomad4 EAS AF: 0.209

Gnomad4 SAS AF: 0.502

Gnomad4 FIN AF: 0.636

Gnomad4 NFE AF: 0.596

Gnomad4 OTH AF: 0.452

Alfa AF: 0.502 Hom.: 5659

Bravo AF: 0.417

Asia WGS AF: 0.336 AC: 1169 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs10836588; hg19: chr11-36713637;