rs10501756

Variant names:

• chr11-91522785-A-G
• rs10501756

Your query was ambiguous. Multiple possible variants found:

• chr11-91522785-A-G
• chr11-91522785-A-T

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 0.314 in 152,042 control chromosomes in the GnomAD database, including 8,927 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 0.31 (8927 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.64
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.477 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: 0.314 AC: 47702 AN: 151924 Hom.: 8930 Cov.: 32

Gnomad AFR AF: 0.102

Gnomad AMI AF: 0.440

Gnomad AMR AF: 0.351

Gnomad ASJ AF: 0.414

Gnomad EAS AF: 0.492

Gnomad SAS AF: 0.309

Gnomad FIN AF: 0.478

Gnomad MID AF: 0.361

Gnomad NFE AF: 0.389

Gnomad OTH AF: 0.331

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

GnomAD4 genome AF: 0.314 AC: 47700 AN: 152042 Hom.: 8927 Cov.: 32 AF XY: 0.318 AC XY: 23665 AN XY: 74312

African (AFR) AF: 0.102 AC: 4224 AN: 41548

American (AMR) AF: 0.351 AC: 5357 AN: 15266

Ashkenazi Jewish (ASJ) AF: 0.414 AC: 1436 AN: 3468

East Asian (EAS) AF: 0.493 AC: 2533 AN: 5140

South Asian (SAS) AF: 0.310 AC: 1494 AN: 4818

European-Finnish (FIN) AF: 0.478 AC: 5038 AN: 10540

Middle Eastern (MID) AF: 0.357 AC: 105 AN: 294

European-Non Finnish (NFE) AF: 0.389 AC: 26415 AN: 67940

Other (OTH) AF: 0.329 AC: 697 AN: 2116

Alfa AF: 0.367 Hom.: 8028

Bravo AF: 0.300

Asia WGS AF: 0.353 AC: 1226 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	7.9
DANN	Benign	0.50
PhyloP100		1.6

Splicing

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

Other links and lift over

dbSNP: rs10501756; hg19: chr11-91255951;