chr12-91132625-T-G

Variant names:

• chr12-91132625-T-G
• rs7956537

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 0.17 in 152,082 control chromosomes in the GnomAD database, including 4,189 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 0.17 (4189 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0510
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.95).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.421 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: 0.170 AC: 25811 AN: 151964 Hom.: 4174 Cov.: 32

Gnomad AFR AF: 0.426

Gnomad AMI AF: 0.0549

Gnomad AMR AF: 0.104

Gnomad ASJ AF: 0.146

Gnomad EAS AF: 0.0610

Gnomad SAS AF: 0.0420

Gnomad FIN AF: 0.0441

Gnomad MID AF: 0.127

Gnomad NFE AF: 0.0693

Gnomad OTH AF: 0.146

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

GnomAD4 genome AF: 0.170 AC: 25858 AN: 152082 Hom.: 4189 Cov.: 32 AF XY: 0.165 AC XY: 12249 AN XY: 74358

African (AFR) AF: 0.426 AC: 17664 AN: 41462

American (AMR) AF: 0.104 AC: 1589 AN: 15264

Ashkenazi Jewish (ASJ) AF: 0.146 AC: 507 AN: 3470

East Asian (EAS) AF: 0.0609 AC: 315 AN: 5170

South Asian (SAS) AF: 0.0416 AC: 201 AN: 4828

European-Finnish (FIN) AF: 0.0441 AC: 468 AN: 10606

Middle Eastern (MID) AF: 0.133 AC: 39 AN: 294

European-Non Finnish (NFE) AF: 0.0693 AC: 4710 AN: 67964

Other (OTH) AF: 0.149 AC: 315 AN: 2114

Alfa AF: 0.0840 Hom.: 432

Bravo AF: 0.188

Asia WGS AF: 0.0730 AC: 255 AN: 3472

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
CADD	Benign	2.7
DANN	Benign	0.48
PhyloP100		0.051

Splicing

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

Other links and lift over

dbSNP: rs7956537; hg19: chr12-91526402;