rs10834007

Variant names:

• chr11-23257752-A-G
• rs10834007

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 0.711 in 151,656 control chromosomes in the GnomAD database, including 38,499 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 0.71 (38499 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.584
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.94).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.751 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: 0.711 AC: 107705 AN: 151538 Hom.: 38474 Cov.: 32

Gnomad AFR AF: 0.654

Gnomad AMI AF: 0.648

Gnomad AMR AF: 0.679

Gnomad ASJ AF: 0.704

Gnomad EAS AF: 0.585

Gnomad SAS AF: 0.771

Gnomad FIN AF: 0.797

Gnomad MID AF: 0.703

Gnomad NFE AF: 0.745

Gnomad OTH AF: 0.715

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

GnomAD4 genome AF: 0.711 AC: 107784 AN: 151656 Hom.: 38499 Cov.: 32 AF XY: 0.714 AC XY: 52938 AN XY: 74110

African (AFR) AF: 0.654 AC: 27067 AN: 41394

American (AMR) AF: 0.679 AC: 10322 AN: 15192

Ashkenazi Jewish (ASJ) AF: 0.704 AC: 2438 AN: 3462

East Asian (EAS) AF: 0.585 AC: 3015 AN: 5152

South Asian (SAS) AF: 0.772 AC: 3721 AN: 4822

European-Finnish (FIN) AF: 0.797 AC: 8406 AN: 10544

Middle Eastern (MID) AF: 0.711 AC: 209 AN: 294

European-Non Finnish (NFE) AF: 0.745 AC: 50524 AN: 67786

Other (OTH) AF: 0.711 AC: 1494 AN: 2102

Alfa AF: 0.736 Hom.: 14709

Bravo AF: 0.695

Asia WGS AF: 0.654 AC: 2274 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	3.5
DANN	Benign	0.54
PhyloP100		-0.58

Splicing

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

Other links and lift over

dbSNP: rs10834007; hg19: chr11-23279298;