rs10745813

Variant names:

• chr12-97871686-G-A
• rs10745813

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 0.8 in 152,072 control chromosomes in the GnomAD database, including 49,320 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 0.80 (49320 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.670

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.95).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.871 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: 0.799 AC: 121478 AN: 151954 Hom.: 49272 Cov.: 31

Gnomad AFR AF: 0.879

Gnomad AMI AF: 0.816

Gnomad AMR AF: 0.831

Gnomad ASJ AF: 0.826

Gnomad EAS AF: 0.477

Gnomad SAS AF: 0.611

Gnomad FIN AF: 0.649

Gnomad MID AF: 0.826

Gnomad NFE AF: 0.803

Gnomad OTH AF: 0.822

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

GnomAD4 genome AF: 0.800 AC: 121585 AN: 152072 Hom.: 49320 Cov.: 31 AF XY: 0.789 AC XY: 58635 AN XY: 74310

Gnomad4 AFR AF: 0.879

Gnomad4 AMR AF: 0.831

Gnomad4 ASJ AF: 0.826

Gnomad4 EAS AF: 0.478

Gnomad4 SAS AF: 0.612

Gnomad4 FIN AF: 0.649

Gnomad4 NFE AF: 0.803

Gnomad4 OTH AF: 0.814

Alfa AF: 0.809 Hom.: 11435

Bravo AF: 0.819

Asia WGS AF: 0.528 AC: 1839 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
CADD	Benign	0.31
DANN	Benign	0.63

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs10745813; hg19: chr12-98265464;