8-127483851-C-T

Variant names:

• chr8-127483851-C-T
• rs9643227

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 0.496 in 151,910 control chromosomes in the GnomAD database, including 18,698 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 0.50 (18698 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.722
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.81).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.534 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

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

Ensembl Transcripts

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

Frequencies

GnomAD3 genomes AF: 0.496 AC: 75230 AN: 151792 Hom.: 18688 Cov.: 31

Gnomad AFR AF: 0.500

Gnomad AMI AF: 0.421

Gnomad AMR AF: 0.456

Gnomad ASJ AF: 0.506

Gnomad EAS AF: 0.363

Gnomad SAS AF: 0.551

Gnomad FIN AF: 0.398

Gnomad MID AF: 0.449

Gnomad NFE AF: 0.524

Gnomad OTH AF: 0.490

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

GnomAD4 genome AF: 0.496 AC: 75274 AN: 151910 Hom.: 18698 Cov.: 31 AF XY: 0.490 AC XY: 36342 AN XY: 74224

African (AFR) AF: 0.499 AC: 20680 AN: 41414

American (AMR) AF: 0.456 AC: 6965 AN: 15270

Ashkenazi Jewish (ASJ) AF: 0.506 AC: 1757 AN: 3470

East Asian (EAS) AF: 0.364 AC: 1877 AN: 5160

South Asian (SAS) AF: 0.551 AC: 2657 AN: 4818

European-Finnish (FIN) AF: 0.398 AC: 4189 AN: 10532

Middle Eastern (MID) AF: 0.446 AC: 131 AN: 294

European-Non Finnish (NFE) AF: 0.524 AC: 35610 AN: 67934

Other (OTH) AF: 0.486 AC: 1025 AN: 2108

Alfa AF: 0.511 Hom.: 53905

Bravo AF: 0.492

Asia WGS AF: 0.418 AC: 1457 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.81
CADD	Benign	0.47
DANN	Benign	0.75
PhyloP100		-0.72

Splicing

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

Other links and lift over

dbSNP: rs9643227; hg19: chr8-128496096; COSMIC: COSV72395236;