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. The variant received -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
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• 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

African (AFR) AF: 0.523 AC: 21606 AN: 41344

American (AMR) AF: 0.459 AC: 6985 AN: 15226

Ashkenazi Jewish (ASJ) AF: 0.517 AC: 1794 AN: 3470

East Asian (EAS) AF: 0.383 AC: 1973 AN: 5148

South Asian (SAS) AF: 0.455 AC: 2184 AN: 4798

European-Finnish (FIN) AF: 0.523 AC: 5472 AN: 10454

Middle Eastern (MID) AF: 0.503 AC: 147 AN: 292

European-Non Finnish (NFE) AF: 0.576 AC: 39110 AN: 67878

Other (OTH) AF: 0.520 AC: 1093 AN: 2100

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
PhyloP100		-0.078

Splicing

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

Other links and lift over

dbSNP: rs10748087; hg19: chr12-68195095;