rs7006328

Variant names:

• chr8-134406324-G-A
• rs7006328

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 0.402 in 151,872 control chromosomes in the GnomAD database, including 12,391 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 0.40 (12391 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0610
• Publications: 3 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 (SAS) allele frequency at 95% confidence interval = 0.532 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: 0.401 AC: 60926 AN: 151754 Hom.: 12377 Cov.: 31

Gnomad AFR AF: 0.396

Gnomad AMI AF: 0.348

Gnomad AMR AF: 0.352

Gnomad ASJ AF: 0.411

Gnomad EAS AF: 0.448

Gnomad SAS AF: 0.549

Gnomad FIN AF: 0.412

Gnomad MID AF: 0.494

Gnomad NFE AF: 0.400

Gnomad OTH AF: 0.404

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

GnomAD4 genome AF: 0.402 AC: 60985 AN: 151872 Hom.: 12391 Cov.: 31 AF XY: 0.404 AC XY: 30011 AN XY: 74218

African (AFR) AF: 0.396 AC: 16387 AN: 41406

American (AMR) AF: 0.352 AC: 5367 AN: 15250

Ashkenazi Jewish (ASJ) AF: 0.411 AC: 1427 AN: 3470

East Asian (EAS) AF: 0.448 AC: 2313 AN: 5164

South Asian (SAS) AF: 0.550 AC: 2644 AN: 4810

European-Finnish (FIN) AF: 0.412 AC: 4340 AN: 10534

Middle Eastern (MID) AF: 0.497 AC: 145 AN: 292

European-Non Finnish (NFE) AF: 0.400 AC: 27177 AN: 67920

Other (OTH) AF: 0.411 AC: 868 AN: 2114

Alfa AF: 0.395 Hom.: 3254

Bravo AF: 0.393

Asia WGS AF: 0.499 AC: 1733 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.56
DANN	Benign	0.30
PhyloP100		-0.061

Splicing

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

Other links and lift over

dbSNP: rs7006328; hg19: chr8-135418567;