chr8-83793001-A-C

Variant names:

• chr8-83793001-A-C
• rs7006609

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 0.376 in 151,636 control chromosomes in the GnomAD database, including 10,986 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 0.38 (10986 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.54
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.99).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.409 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: 0.376 AC: 56906 AN: 151520 Hom.: 10983 Cov.: 32

Gnomad AFR AF: 0.294

Gnomad AMI AF: 0.280

Gnomad AMR AF: 0.378

Gnomad ASJ AF: 0.362

Gnomad EAS AF: 0.421

Gnomad SAS AF: 0.315

Gnomad FIN AF: 0.471

Gnomad MID AF: 0.304

Gnomad NFE AF: 0.413

Gnomad OTH AF: 0.392

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

GnomAD4 genome AF: 0.376 AC: 56941 AN: 151636 Hom.: 10986 Cov.: 32 AF XY: 0.377 AC XY: 27966 AN XY: 74106

African (AFR) AF: 0.294 AC: 12153 AN: 41390

American (AMR) AF: 0.378 AC: 5746 AN: 15184

Ashkenazi Jewish (ASJ) AF: 0.362 AC: 1252 AN: 3462

East Asian (EAS) AF: 0.422 AC: 2159 AN: 5122

South Asian (SAS) AF: 0.315 AC: 1520 AN: 4824

European-Finnish (FIN) AF: 0.471 AC: 4972 AN: 10558

Middle Eastern (MID) AF: 0.296 AC: 87 AN: 294

European-Non Finnish (NFE) AF: 0.413 AC: 27973 AN: 67790

Other (OTH) AF: 0.392 AC: 824 AN: 2100

Alfa AF: 0.309 Hom.: 1262

Bravo AF: 0.367

Asia WGS AF: 0.382 AC: 1325 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
CADD	Benign	0.31
DANN	Benign	0.46
PhyloP100		-1.5

Splicing

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

Other links and lift over

dbSNP: rs7006609; hg19: chr8-84705236;