8-133995424-C-T

Variant names:

• chr8-133995424-C-T
• rs6982411

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 rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	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;