8-119532708-C-T

Variant names:

• chr8-119532708-C-T
• rs6993464

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 0.385 in 151,820 control chromosomes in the GnomAD database, including 12,397 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 (12397 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.494
• Publications: 7 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.557 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.385 AC: 58368 AN: 151702 Hom.: 12397 Cov.: 31

Gnomad AFR AF: 0.204

Gnomad AMI AF: 0.534

Gnomad AMR AF: 0.469

Gnomad ASJ AF: 0.440

Gnomad EAS AF: 0.338

Gnomad SAS AF: 0.575

Gnomad FIN AF: 0.519

Gnomad MID AF: 0.370

Gnomad NFE AF: 0.440

Gnomad OTH AF: 0.390

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

GnomAD4 genome AF: 0.385 AC: 58390 AN: 151820 Hom.: 12397 Cov.: 31 AF XY: 0.393 AC XY: 29147 AN XY: 74174

African (AFR) AF: 0.204 AC: 8442 AN: 41394

American (AMR) AF: 0.469 AC: 7156 AN: 15244

Ashkenazi Jewish (ASJ) AF: 0.440 AC: 1521 AN: 3460

East Asian (EAS) AF: 0.338 AC: 1746 AN: 5160

South Asian (SAS) AF: 0.575 AC: 2764 AN: 4808

European-Finnish (FIN) AF: 0.519 AC: 5455 AN: 10512

Middle Eastern (MID) AF: 0.361 AC: 106 AN: 294

European-Non Finnish (NFE) AF: 0.440 AC: 29884 AN: 67932

Other (OTH) AF: 0.394 AC: 832 AN: 2110

Alfa AF: 0.421 Hom.: 28180

Bravo AF: 0.366

Asia WGS AF: 0.482 AC: 1674 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	6.7
DANN	Benign	0.85
PhyloP100		-0.49

Splicing

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

Other links and lift over

dbSNP: rs6993464; hg19: chr8-120544948;