rs7308752

Variant names:

• chr12-91133404-A-G
• rs7308752

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 0.247 in 151,930 control chromosomes in the GnomAD database, including 8,271 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 0.25 (8271 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.14
• Publications: 8 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.98).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.585 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: 0.247 AC: 37444 AN: 151812 Hom.: 8239 Cov.: 32

Gnomad AFR AF: 0.590

Gnomad AMI AF: 0.0603

Gnomad AMR AF: 0.183

Gnomad ASJ AF: 0.163

Gnomad EAS AF: 0.311

Gnomad SAS AF: 0.121

Gnomad FIN AF: 0.0702

Gnomad MID AF: 0.196

Gnomad NFE AF: 0.0916

Gnomad OTH AF: 0.209

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

GnomAD4 genome AF: 0.247 AC: 37530 AN: 151930 Hom.: 8271 Cov.: 32 AF XY: 0.243 AC XY: 18068 AN XY: 74246

African (AFR) AF: 0.591 AC: 24469 AN: 41406

American (AMR) AF: 0.183 AC: 2786 AN: 15258

Ashkenazi Jewish (ASJ) AF: 0.163 AC: 567 AN: 3470

East Asian (EAS) AF: 0.311 AC: 1601 AN: 5152

South Asian (SAS) AF: 0.121 AC: 581 AN: 4810

European-Finnish (FIN) AF: 0.0702 AC: 742 AN: 10570

Middle Eastern (MID) AF: 0.197 AC: 58 AN: 294

European-Non Finnish (NFE) AF: 0.0916 AC: 6226 AN: 67948

Other (OTH) AF: 0.211 AC: 445 AN: 2110

Alfa AF: 0.156 Hom.: 9367

Bravo AF: 0.274

Asia WGS AF: 0.247 AC: 862 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
CADD	Benign	1.3
DANN	Benign	0.58
PhyloP100		-1.1

Splicing

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

Other links and lift over

dbSNP: rs7308752; hg19: chr12-91527181;