rs11186734

Variant names:

• chr10-91897499-C-T
• rs11186734

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 0.0531 in 152,268 control chromosomes in the GnomAD database, including 316 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 0.053 (316 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.136
• Publications: 5 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.66).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.161 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

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

Ensembl Transcripts

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

Frequencies

GnomAD3 genomes AF: 0.0532 AC: 8090 AN: 152148 Hom.: 316 Cov.: 32

Gnomad AFR AF: 0.0332

Gnomad AMI AF: 0.152

Gnomad AMR AF: 0.0461

Gnomad ASJ AF: 0.0695

Gnomad EAS AF: 0.170

Gnomad SAS AF: 0.0269

Gnomad FIN AF: 0.0461

Gnomad MID AF: 0.0791

Gnomad NFE AF: 0.0585

Gnomad OTH AF: 0.0589

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

GnomAD4 genome AF: 0.0531 AC: 8088 AN: 152268 Hom.: 316 Cov.: 32 AF XY: 0.0530 AC XY: 3946 AN XY: 74442

African (AFR) AF: 0.0331 AC: 1377 AN: 41556

American (AMR) AF: 0.0460 AC: 703 AN: 15294

Ashkenazi Jewish (ASJ) AF: 0.0695 AC: 241 AN: 3470

East Asian (EAS) AF: 0.171 AC: 885 AN: 5182

South Asian (SAS) AF: 0.0267 AC: 129 AN: 4824

European-Finnish (FIN) AF: 0.0461 AC: 489 AN: 10612

Middle Eastern (MID) AF: 0.0782 AC: 23 AN: 294

European-Non Finnish (NFE) AF: 0.0585 AC: 3981 AN: 68014

Other (OTH) AF: 0.0578 AC: 122 AN: 2112

Alfa AF: 0.0572 Hom.: 487

Bravo AF: 0.0545

Asia WGS AF: 0.0770 AC: 269 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.66
CADD	Benign	5.6
DANN	Benign	0.75
PhyloP100		0.14

Splicing

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

Other links and lift over

dbSNP: rs11186734; hg19: chr10-93657256;