8-123850263-C-T

Variant names:

• chr8-123850263-C-T
• rs6470192

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 0.471 in 151,128 control chromosomes in the GnomAD database, including 17,149 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 0.47 (17149 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.58
• Publications: 6 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.496 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: 0.471 AC: 71182 AN: 151012 Hom.: 17148 Cov.: 30

Gnomad AFR AF: 0.498

Gnomad AMI AF: 0.541

Gnomad AMR AF: 0.342

Gnomad ASJ AF: 0.515

Gnomad EAS AF: 0.268

Gnomad SAS AF: 0.377

Gnomad FIN AF: 0.485

Gnomad MID AF: 0.573

Gnomad NFE AF: 0.500

Gnomad OTH AF: 0.473

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

GnomAD4 genome AF: 0.471 AC: 71201 AN: 151128 Hom.: 17149 Cov.: 30 AF XY: 0.466 AC XY: 34391 AN XY: 73792

African (AFR) AF: 0.498 AC: 20403 AN: 41002

American (AMR) AF: 0.341 AC: 5170 AN: 15158

Ashkenazi Jewish (ASJ) AF: 0.515 AC: 1786 AN: 3466

East Asian (EAS) AF: 0.268 AC: 1367 AN: 5102

South Asian (SAS) AF: 0.377 AC: 1799 AN: 4776

European-Finnish (FIN) AF: 0.485 AC: 5064 AN: 10434

Middle Eastern (MID) AF: 0.592 AC: 173 AN: 292

European-Non Finnish (NFE) AF: 0.500 AC: 33959 AN: 67888

Other (OTH) AF: 0.470 AC: 988 AN: 2100

Alfa AF: 0.479 Hom.: 33676

Bravo AF: 0.459

Asia WGS AF: 0.330 AC: 1151 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	0.095
DANN	Benign	0.61
PhyloP100		-1.6

Splicing

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

Other links and lift over

dbSNP: rs6470192; hg19: chr8-124862503;