rs181652

Variant names:

• chr10-117619576-G-A
• rs181652

Your query was ambiguous. Multiple possible variants found:

• chr10-117619576-G-A
• chr10-117619576-G-C

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.494 in 151,906 control chromosomes in the GnomAD database, including 19,221 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 (19221 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.209

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.84).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.645 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: 0.494 AC: 75055 AN: 151788 Hom.: 19229 Cov.: 32

Gnomad AFR AF: 0.360

Gnomad AMI AF: 0.629

Gnomad AMR AF: 0.471

Gnomad ASJ AF: 0.582

Gnomad EAS AF: 0.664

Gnomad SAS AF: 0.623

Gnomad FIN AF: 0.543

Gnomad MID AF: 0.595

Gnomad NFE AF: 0.544

Gnomad OTH AF: 0.528

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

GnomAD4 genome AF: 0.494 AC: 75042 AN: 151906 Hom.: 19221 Cov.: 32 AF XY: 0.497 AC XY: 36890 AN XY: 74222

Gnomad4 AFR AF: 0.359

Gnomad4 AMR AF: 0.470

Gnomad4 ASJ AF: 0.582

Gnomad4 EAS AF: 0.663

Gnomad4 SAS AF: 0.622

Gnomad4 FIN AF: 0.543

Gnomad4 NFE AF: 0.544

Gnomad4 OTH AF: 0.524

Alfa AF: 0.517 Hom.: 11649

Bravo AF: 0.482

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.84
CADD	Benign	4.1
DANN	Benign	0.42

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs181652; hg19: chr10-119379087;