rs10831224

Variant names:

• chr11-94412314-C-A
• rs10831224

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 0.101 in 152,180 control chromosomes in the GnomAD database, including 824 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 0.10 (824 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0640
• Publications: 5 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.79).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.176 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: 0.101 AC: 15406 AN: 152062 Hom.: 823 Cov.: 32

Gnomad AFR AF: 0.107

Gnomad AMI AF: 0.0132

Gnomad AMR AF: 0.104

Gnomad ASJ AF: 0.0796

Gnomad EAS AF: 0.0960

Gnomad SAS AF: 0.185

Gnomad FIN AF: 0.0670

Gnomad MID AF: 0.120

Gnomad NFE AF: 0.0989

Gnomad OTH AF: 0.106

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

GnomAD4 genome AF: 0.101 AC: 15426 AN: 152180 Hom.: 824 Cov.: 32 AF XY: 0.103 AC XY: 7636 AN XY: 74424

African (AFR) AF: 0.108 AC: 4468 AN: 41492

American (AMR) AF: 0.104 AC: 1590 AN: 15290

Ashkenazi Jewish (ASJ) AF: 0.0796 AC: 276 AN: 3468

East Asian (EAS) AF: 0.0954 AC: 494 AN: 5178

South Asian (SAS) AF: 0.186 AC: 897 AN: 4824

European-Finnish (FIN) AF: 0.0670 AC: 711 AN: 10608

Middle Eastern (MID) AF: 0.122 AC: 36 AN: 294

European-Non Finnish (NFE) AF: 0.0988 AC: 6722 AN: 68002

Other (OTH) AF: 0.104 AC: 220 AN: 2112

Alfa AF: 0.0999 Hom.: 392

Bravo AF: 0.101

Asia WGS AF: 0.156 AC: 541 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.79
CADD	Benign	2.3
DANN	Benign	0.77
PhyloP100		-0.064

Splicing

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

Other links and lift over

dbSNP: rs10831224; hg19: chr11-94145480;