8-134926249-C-G

Variant names:

• chr8-134926249-C-G
• rs12548494

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 0.27 in 152,082 control chromosomes in the GnomAD database, including 5,772 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 0.27 (5772 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.398
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.82).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.33 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: 0.270 AC: 40966 AN: 151964 Hom.: 5752 Cov.: 32

Gnomad AFR AF: 0.242

Gnomad AMI AF: 0.198

Gnomad AMR AF: 0.337

Gnomad ASJ AF: 0.177

Gnomad EAS AF: 0.276

Gnomad SAS AF: 0.329

Gnomad FIN AF: 0.276

Gnomad MID AF: 0.218

Gnomad NFE AF: 0.272

Gnomad OTH AF: 0.258

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

GnomAD4 genome AF: 0.270 AC: 41020 AN: 152082 Hom.: 5772 Cov.: 32 AF XY: 0.273 AC XY: 20291 AN XY: 74336

African (AFR) AF: 0.242 AC: 10036 AN: 41482

American (AMR) AF: 0.338 AC: 5158 AN: 15282

Ashkenazi Jewish (ASJ) AF: 0.177 AC: 616 AN: 3472

East Asian (EAS) AF: 0.275 AC: 1420 AN: 5164

South Asian (SAS) AF: 0.330 AC: 1587 AN: 4806

European-Finnish (FIN) AF: 0.276 AC: 2924 AN: 10580

Middle Eastern (MID) AF: 0.211 AC: 62 AN: 294

European-Non Finnish (NFE) AF: 0.272 AC: 18476 AN: 67976

Other (OTH) AF: 0.265 AC: 560 AN: 2114

Alfa AF: 0.138 Hom.: 227

Bravo AF: 0.266

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.82
CADD	Benign	7.1
DANN	Benign	0.66
PhyloP100		0.40

Splicing

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

Other links and lift over

dbSNP: rs12548494; hg19: chr8-135938492;