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. Variant got -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

ACMG classification

Verdict is Benign. Variant got -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

Gnomad4 AFR AF: 0.479

Gnomad4 AMR AF: 0.748

Gnomad4 ASJ AF: 0.745

Gnomad4 EAS AF: 0.705

Gnomad4 SAS AF: 0.511

Gnomad4 FIN AF: 0.572

Gnomad4 NFE AF: 0.698

Gnomad4 OTH AF: 0.673

Alfa AF: 0.658 Hom.: 12311

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs10751709; hg19: chr12-132078892;