8-119495032-G-A

Variant names:

• chr8-119495032-G-A
• rs7846200

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 0.379 in 151,634 control chromosomes in the GnomAD database, including 11,663 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 (11663 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.35
• Publications: 3 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 (SAS) allele frequency at 95% confidence interval = 0.566 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt

Frequencies

GnomAD3 genomes AF: 0.379 AC: 57424 AN: 151518 Hom.: 11660 Cov.: 31

Gnomad AFR AF: 0.239

Gnomad AMI AF: 0.570

Gnomad AMR AF: 0.433

Gnomad ASJ AF: 0.417

Gnomad EAS AF: 0.299

Gnomad SAS AF: 0.584

Gnomad FIN AF: 0.474

Gnomad MID AF: 0.339

Gnomad NFE AF: 0.424

Gnomad OTH AF: 0.382

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

GnomAD4 genome AF: 0.379 AC: 57442 AN: 151634 Hom.: 11663 Cov.: 31 AF XY: 0.385 AC XY: 28502 AN XY: 74036

African (AFR) AF: 0.239 AC: 9864 AN: 41310

American (AMR) AF: 0.432 AC: 6586 AN: 15230

Ashkenazi Jewish (ASJ) AF: 0.417 AC: 1443 AN: 3464

East Asian (EAS) AF: 0.299 AC: 1542 AN: 5156

South Asian (SAS) AF: 0.584 AC: 2811 AN: 4816

European-Finnish (FIN) AF: 0.474 AC: 4953 AN: 10454

Middle Eastern (MID) AF: 0.327 AC: 96 AN: 294

European-Non Finnish (NFE) AF: 0.424 AC: 28815 AN: 67898

Other (OTH) AF: 0.387 AC: 813 AN: 2102

Alfa AF: 0.402 Hom.: 6399

Bravo AF: 0.363

Asia WGS AF: 0.480 AC: 1667 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
CADD	Benign	0.56
DANN	Benign	0.39
PhyloP100		-1.4

Splicing

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

Other links and lift over

dbSNP: rs7846200; hg19: chr8-120507272;