8-121198650-T-C

Variant names:

• chr8-121198650-T-C
• rs7819988

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 0.48 in 151,968 control chromosomes in the GnomAD database, including 17,690 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 0.48 (17690 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.455
• Publications: 5 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.84).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.64 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: 0.480 AC: 72815 AN: 151850 Hom.: 17677 Cov.: 32

Gnomad AFR AF: 0.492

Gnomad AMI AF: 0.314

Gnomad AMR AF: 0.539

Gnomad ASJ AF: 0.435

Gnomad EAS AF: 0.612

Gnomad SAS AF: 0.658

Gnomad FIN AF: 0.435

Gnomad MID AF: 0.389

Gnomad NFE AF: 0.448

Gnomad OTH AF: 0.481

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

GnomAD4 genome AF: 0.480 AC: 72880 AN: 151968 Hom.: 17690 Cov.: 32 AF XY: 0.484 AC XY: 35956 AN XY: 74264

African (AFR) AF: 0.492 AC: 20369 AN: 41424

American (AMR) AF: 0.539 AC: 8228 AN: 15258

Ashkenazi Jewish (ASJ) AF: 0.435 AC: 1509 AN: 3468

East Asian (EAS) AF: 0.613 AC: 3157 AN: 5154

South Asian (SAS) AF: 0.659 AC: 3170 AN: 4812

European-Finnish (FIN) AF: 0.435 AC: 4600 AN: 10580

Middle Eastern (MID) AF: 0.408 AC: 120 AN: 294

European-Non Finnish (NFE) AF: 0.448 AC: 30431 AN: 67960

Other (OTH) AF: 0.480 AC: 1010 AN: 2106

Alfa AF: 0.471 Hom.: 2071

Bravo AF: 0.483

Asia WGS AF: 0.618 AC: 2147 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.84
CADD	Benign	7.9
DANN	Benign	0.69
PhyloP100		0.46

Splicing

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

Other links and lift over

dbSNP: rs7819988; hg19: chr8-122210890;