rs12528248

Variant names:

• chr6-36688605-G-A
• rs12528248

Your query was ambiguous. Multiple possible variants found:

• chr6-36688605-G-A
• chr6-36688605-G-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 0.136 in 152,116 control chromosomes in the GnomAD database, including 2,083 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 0.14 (2083 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.181
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.96).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.441 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: 0.136 AC: 20696 AN: 151998 Hom.: 2079 Cov.: 32

Gnomad AFR AF: 0.210

Gnomad AMI AF: 0.138

Gnomad AMR AF: 0.218

Gnomad ASJ AF: 0.0786

Gnomad EAS AF: 0.457

Gnomad SAS AF: 0.110

Gnomad FIN AF: 0.0599

Gnomad MID AF: 0.0791

Gnomad NFE AF: 0.0655

Gnomad OTH AF: 0.132

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

GnomAD4 genome AF: 0.136 AC: 20723 AN: 152116 Hom.: 2083 Cov.: 32 AF XY: 0.140 AC XY: 10395 AN XY: 74350

African (AFR) AF: 0.210 AC: 8707 AN: 41462

American (AMR) AF: 0.219 AC: 3339 AN: 15280

Ashkenazi Jewish (ASJ) AF: 0.0786 AC: 273 AN: 3472

East Asian (EAS) AF: 0.457 AC: 2365 AN: 5178

South Asian (SAS) AF: 0.109 AC: 526 AN: 4816

European-Finnish (FIN) AF: 0.0599 AC: 633 AN: 10576

Middle Eastern (MID) AF: 0.0782 AC: 23 AN: 294

European-Non Finnish (NFE) AF: 0.0655 AC: 4452 AN: 68012

Other (OTH) AF: 0.132 AC: 279 AN: 2116

Alfa AF: 0.0474 Hom.: 51

Bravo AF: 0.160

Asia WGS AF: 0.242 AC: 842 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	1.1
DANN	Benign	0.52
PhyloP100		0.18

Splicing

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

Other links and lift over

dbSNP: rs12528248; hg19: chr6-36656382;