rs12527282

Variant names:

• chr6-137646115-C-T
• rs12527282

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 0.243 in 152,004 control chromosomes in the GnomAD database, including 4,693 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 0.24 (4693 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.262

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.82).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.283 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: 0.243 AC: 36868 AN: 151886 Hom.: 4689 Cov.: 31

Gnomad AFR AF: 0.188

Gnomad AMI AF: 0.401

Gnomad AMR AF: 0.290

Gnomad ASJ AF: 0.342

Gnomad EAS AF: 0.0960

Gnomad SAS AF: 0.256

Gnomad FIN AF: 0.224

Gnomad MID AF: 0.288

Gnomad NFE AF: 0.271

Gnomad OTH AF: 0.246

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

GnomAD4 genome AF: 0.243 AC: 36872 AN: 152004 Hom.: 4693 Cov.: 31 AF XY: 0.241 AC XY: 17940 AN XY: 74306

Gnomad4 AFR AF: 0.188

Gnomad4 AMR AF: 0.291

Gnomad4 ASJ AF: 0.342

Gnomad4 EAS AF: 0.0958

Gnomad4 SAS AF: 0.257

Gnomad4 FIN AF: 0.224

Gnomad4 NFE AF: 0.271

Gnomad4 OTH AF: 0.245

Alfa AF: 0.274 Hom.: 8120

Bravo AF: 0.248

Asia WGS AF: 0.156 AC: 544 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.82
CADD	Benign	4.8
DANN	Benign	0.85

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs12527282; hg19: chr6-137967252;