rs10751709

Variant names:

• chr12-131594347-G-A
• rs10751709

Your query was ambiguous. Multiple possible variants found:

• chr12-131594347-G-A
• chr12-131594347-G-C

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 0.63 in 151,844 control chromosomes in the GnomAD database, including 31,067 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 0.63 (31067 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.596
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.96).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.737 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: 0.630 AC: 95634 AN: 151726 Hom.: 31065 Cov.: 30

Gnomad AFR AF: 0.479

Gnomad AMI AF: 0.750

Gnomad AMR AF: 0.748

Gnomad ASJ AF: 0.745

Gnomad EAS AF: 0.706

Gnomad SAS AF: 0.512

Gnomad FIN AF: 0.572

Gnomad MID AF: 0.684

Gnomad NFE AF: 0.698

Gnomad OTH AF: 0.673

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

GnomAD4 genome AF: 0.630 AC: 95670 AN: 151844 Hom.: 31067 Cov.: 30 AF XY: 0.625 AC XY: 46360 AN XY: 74206

African (AFR) AF: 0.479 AC: 19814 AN: 41358

American (AMR) AF: 0.748 AC: 11430 AN: 15276

Ashkenazi Jewish (ASJ) AF: 0.745 AC: 2585 AN: 3470

East Asian (EAS) AF: 0.705 AC: 3637 AN: 5156

South Asian (SAS) AF: 0.511 AC: 2454 AN: 4804

European-Finnish (FIN) AF: 0.572 AC: 6024 AN: 10538

Middle Eastern (MID) AF: 0.677 AC: 199 AN: 294

European-Non Finnish (NFE) AF: 0.698 AC: 47424 AN: 67928

Other (OTH) AF: 0.673 AC: 1422 AN: 2112

Alfa AF: 0.660 Hom.: 14253

Bravo AF: 0.643

Asia WGS AF: 0.608 AC: 2115 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	1.3
DANN	Benign	0.71
PhyloP100		-0.60

Splicing

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

Other links and lift over

dbSNP: rs10751709; hg19: chr12-132078892;