rs10792830

Variant names:

• chr11-86127766-G-A
• rs10792830

Your query was ambiguous. Multiple possible variants found:

• chr11-86127766-G-A
• chr11-86127766-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 0.509 in 152,002 control chromosomes in the GnomAD database, including 20,602 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 0.51 (20602 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.448
• Publications: 21 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.8).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.663 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: 0.509 AC: 77364 AN: 151884 Hom.: 20586 Cov.: 32

Gnomad AFR AF: 0.670

Gnomad AMI AF: 0.448

Gnomad AMR AF: 0.502

Gnomad ASJ AF: 0.390

Gnomad EAS AF: 0.598

Gnomad SAS AF: 0.514

Gnomad FIN AF: 0.316

Gnomad MID AF: 0.370

Gnomad NFE AF: 0.444

Gnomad OTH AF: 0.490

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

GnomAD4 genome AF: 0.509 AC: 77433 AN: 152002 Hom.: 20602 Cov.: 32 AF XY: 0.503 AC XY: 37411 AN XY: 74306

African (AFR) AF: 0.670 AC: 27780 AN: 41468

American (AMR) AF: 0.502 AC: 7661 AN: 15274

Ashkenazi Jewish (ASJ) AF: 0.390 AC: 1350 AN: 3464

East Asian (EAS) AF: 0.597 AC: 3091 AN: 5174

South Asian (SAS) AF: 0.516 AC: 2487 AN: 4820

European-Finnish (FIN) AF: 0.316 AC: 3327 AN: 10532

Middle Eastern (MID) AF: 0.367 AC: 108 AN: 294

European-Non Finnish (NFE) AF: 0.444 AC: 30181 AN: 67956

Other (OTH) AF: 0.493 AC: 1040 AN: 2110

Alfa AF: 0.464 Hom.: 57003

Bravo AF: 0.528

Asia WGS AF: 0.545 AC: 1889 AN: 3470

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.80
CADD	Benign	16
DANN	Benign	0.61
PhyloP100		0.45

Splicing

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

Other links and lift over

dbSNP: rs10792830; hg19: chr11-85838808; COSMIC: COSV52478671;