rs10501872

Variant names:

• chr11-97343831-G-A
• rs10501872

Your query was ambiguous. Multiple possible variants found:

• chr11-97343831-G-A
• chr11-97343831-G-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 0.76 in 152,078 control chromosomes in the GnomAD database, including 46,140 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 0.76 (46140 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.481
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.0).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.965 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: 0.760 AC: 115475 AN: 151958 Hom.: 46124 Cov.: 32

Gnomad AFR AF: 0.492

Gnomad AMI AF: 0.883

Gnomad AMR AF: 0.843

Gnomad ASJ AF: 0.854

Gnomad EAS AF: 0.988

Gnomad SAS AF: 0.930

Gnomad FIN AF: 0.877

Gnomad MID AF: 0.774

Gnomad NFE AF: 0.849

Gnomad OTH AF: 0.779

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

GnomAD4 genome AF: 0.760 AC: 115532 AN: 152078 Hom.: 46140 Cov.: 32 AF XY: 0.768 AC XY: 57064 AN XY: 74342

African (AFR) AF: 0.492 AC: 20352 AN: 41398

American (AMR) AF: 0.843 AC: 12885 AN: 15288

Ashkenazi Jewish (ASJ) AF: 0.854 AC: 2965 AN: 3472

East Asian (EAS) AF: 0.988 AC: 5116 AN: 5178

South Asian (SAS) AF: 0.931 AC: 4488 AN: 4820

European-Finnish (FIN) AF: 0.877 AC: 9284 AN: 10592

Middle Eastern (MID) AF: 0.772 AC: 224 AN: 290

European-Non Finnish (NFE) AF: 0.849 AC: 57764 AN: 68012

Other (OTH) AF: 0.779 AC: 1649 AN: 2116

Alfa AF: 0.732 Hom.: 2963

Bravo AF: 0.745

Asia WGS AF: 0.904 AC: 3133 AN: 3468

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	1.5
DANN	Benign	0.31
PhyloP100		0.48

Splicing

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

Other links and lift over

dbSNP: rs10501872; hg19: chr11-97214831;