chr8-133165637-C-G

Position:

• chr8-133165637-C-G

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 0.541 in 151,984 control chromosomes in the GnomAD database, including 23,217 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 0.54 (23217 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.186

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.83).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.621 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt

Ensembl

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

Frequencies

GnomAD3 genomes AF: 0.541 AC: 82179 AN: 151866 Hom.: 23208 Cov.: 32

Gnomad AFR AF: 0.428

Gnomad AMI AF: 0.677

Gnomad AMR AF: 0.428

Gnomad ASJ AF: 0.552

Gnomad EAS AF: 0.393

Gnomad SAS AF: 0.491

Gnomad FIN AF: 0.677

Gnomad MID AF: 0.541

Gnomad NFE AF: 0.626

Gnomad OTH AF: 0.538

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

GnomAD4 genome AF: 0.541 AC: 82216 AN: 151984 Hom.: 23217 Cov.: 32 AF XY: 0.540 AC XY: 40093 AN XY: 74310

Gnomad4 AFR AF: 0.428

Gnomad4 AMR AF: 0.429

Gnomad4 ASJ AF: 0.552

Gnomad4 EAS AF: 0.393

Gnomad4 SAS AF: 0.490

Gnomad4 FIN AF: 0.677

Gnomad4 NFE AF: 0.626

Gnomad4 OTH AF: 0.536

Alfa AF: 0.580 Hom.: 3148

Bravo AF: 0.519

Asia WGS AF: 0.393 AC: 1373 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.83
CADD	Benign	7.4
DANN	Benign	0.58

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs2739122; hg19: chr8-134177881;