8-133995424-C-T

Position:

• chr8-133995424-C-T

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.547 in 151,974 control chromosomes in the GnomAD database, including 23,529 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 0.55 (23529 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.627

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.03).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.683 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.547 AC: 83015 AN: 151856 Hom.: 23503 Cov.: 32

Gnomad AFR AF: 0.690

Gnomad AMI AF: 0.619

Gnomad AMR AF: 0.479

Gnomad ASJ AF: 0.575

Gnomad EAS AF: 0.308

Gnomad SAS AF: 0.338

Gnomad FIN AF: 0.444

Gnomad MID AF: 0.734

Gnomad NFE AF: 0.519

Gnomad OTH AF: 0.581

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

GnomAD4 genome AF: 0.547 AC: 83080 AN: 151974 Hom.: 23529 Cov.: 32 AF XY: 0.539 AC XY: 40008 AN XY: 74252

Gnomad4 AFR AF: 0.690

Gnomad4 AMR AF: 0.479

Gnomad4 ASJ AF: 0.575

Gnomad4 EAS AF: 0.308

Gnomad4 SAS AF: 0.336

Gnomad4 FIN AF: 0.444

Gnomad4 NFE AF: 0.519

Gnomad4 OTH AF: 0.574

Alfa AF: 0.529 Hom.: 28490

Bravo AF: 0.558

Asia WGS AF: 0.308 AC: 1072 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	1.1
DANN	Benign	0.30

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs6982411; hg19: chr8-135007667;