rs10792032

chr11-69217135-G-A

Variant summary

Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_Moderate BA1

The variant allele was found at a frequency of 0.489 in 151,260 control chromosomes in the GnomAD database, including 18,911 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 0.49 (18911 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 2.17

ACMG classification

Verdict is Benign. Variant got -10 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.42).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.556 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.489 AC: 73894 AN: 151142 Hom.: 18876 Cov.: 30

Gnomad AFR AF: 0.561

Gnomad AMI AF: 0.413

Gnomad AMR AF: 0.383

Gnomad ASJ AF: 0.659

Gnomad EAS AF: 0.0695

Gnomad SAS AF: 0.326

Gnomad FIN AF: 0.471

Gnomad MID AF: 0.636

Gnomad NFE AF: 0.506

Gnomad OTH AF: 0.517

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

GnomAD4 genome AF: 0.489 AC: 73978 AN: 151260 Hom.: 18911 Cov.: 30 AF XY: 0.483 AC XY: 35648 AN XY: 73862

Gnomad4 AFR AF: 0.562

Gnomad4 AMR AF: 0.383

Gnomad4 ASJ AF: 0.659

Gnomad4 EAS AF: 0.0687

Gnomad4 SAS AF: 0.327

Gnomad4 FIN AF: 0.471

Gnomad4 NFE AF: 0.506

Gnomad4 OTH AF: 0.515

Alfa AF: 0.495 Hom.: 2724

Bravo AF: 0.488

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.42
Cadd	Benign	15
Dann	Benign	0.80

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs10792032; hg19: chr11-68984602;