chr8-134427709-C-G

Variant names:

• chr8-134427709-C-G
• rs7462652

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 0.578 in 152,088 control chromosomes in the GnomAD database, including 26,186 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 0.58 (26186 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.151
• Publications: 4 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.01).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.712 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.578 AC: 87853 AN: 151970 Hom.: 26133 Cov.: 32

Gnomad AFR AF: 0.718

Gnomad AMI AF: 0.575

Gnomad AMR AF: 0.489

Gnomad ASJ AF: 0.516

Gnomad EAS AF: 0.568

Gnomad SAS AF: 0.658

Gnomad FIN AF: 0.539

Gnomad MID AF: 0.573

Gnomad NFE AF: 0.518

Gnomad OTH AF: 0.557

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

GnomAD4 genome AF: 0.578 AC: 87960 AN: 152088 Hom.: 26186 Cov.: 32 AF XY: 0.580 AC XY: 43117 AN XY: 74348

African (AFR) AF: 0.718 AC: 29803 AN: 41486

American (AMR) AF: 0.489 AC: 7476 AN: 15288

Ashkenazi Jewish (ASJ) AF: 0.516 AC: 1793 AN: 3472

East Asian (EAS) AF: 0.568 AC: 2943 AN: 5178

South Asian (SAS) AF: 0.657 AC: 3164 AN: 4814

European-Finnish (FIN) AF: 0.539 AC: 5694 AN: 10562

Middle Eastern (MID) AF: 0.575 AC: 169 AN: 294

European-Non Finnish (NFE) AF: 0.518 AC: 35211 AN: 67976

Other (OTH) AF: 0.562 AC: 1186 AN: 2112

Alfa AF: 0.402 Hom.: 1016

Bravo AF: 0.580

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	1.3
DANN	Benign	0.42
PhyloP100		-0.15

Splicing

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

Other links and lift over

dbSNP: rs7462652; hg19: chr8-135439952;