rs10748087

Variant names:

• chr12-67801315-C-G
• rs10748087

Your query was ambiguous. Multiple possible variants found:

• chr12-67801315-C-G
• chr12-67801315-C-T

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 0.534 in 151,620 control chromosomes in the GnomAD database, including 21,829 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 0.53 (21829 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0780

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.571 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: 0.534 AC: 80837 AN: 151506 Hom.: 21806 Cov.: 31

Gnomad AFR AF: 0.522

Gnomad AMI AF: 0.599

Gnomad AMR AF: 0.459

Gnomad ASJ AF: 0.517

Gnomad EAS AF: 0.384

Gnomad SAS AF: 0.454

Gnomad FIN AF: 0.523

Gnomad MID AF: 0.500

Gnomad NFE AF: 0.576

Gnomad OTH AF: 0.520

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

GnomAD4 genome AF: 0.534 AC: 80909 AN: 151620 Hom.: 21829 Cov.: 31 AF XY: 0.529 AC XY: 39152 AN XY: 74076

Gnomad4 AFR AF: 0.523

Gnomad4 AMR AF: 0.459

Gnomad4 ASJ AF: 0.517

Gnomad4 EAS AF: 0.383

Gnomad4 SAS AF: 0.455

Gnomad4 FIN AF: 0.523

Gnomad4 NFE AF: 0.576

Gnomad4 OTH AF: 0.520

Alfa AF: 0.565 Hom.: 2942

Bravo AF: 0.524

Asia WGS AF: 0.472 AC: 1646 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	0.43
DANN	Benign	0.37

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs10748087; hg19: chr12-68195095;