rs11186734

Variant names:

• chr10-91897499-C-T
• rs11186734

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 0.0531 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

ACMG classification

Verdict is Benign. Variant got -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.

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: 0.0532 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

Gnomad4 AFR AF: 0.0331

Gnomad4 AMR AF: 0.0460

Gnomad4 ASJ AF: 0.0695

Gnomad4 EAS AF: 0.171

Gnomad4 SAS AF: 0.0267

Gnomad4 FIN AF: 0.0461

Gnomad4 NFE AF: 0.0585

Gnomad4 OTH AF: 0.0578

Alfa AF: 0.0587 Hom.: 397

Bravo AF: 0.0545

Asia WGS AF: 0.0770 AC: 269 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs11186734; hg19: chr10-93657256;