8-137355449-C-T

Position:

• chr8-137355449-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 0.482 in 151,912 control chromosomes in the GnomAD database, including 18,590 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 0.48 (18590 hom., cov: 32)
• Consequence: intergenic_region
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.234

Genes affected

(HGNC:):

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.549 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
		n.137355449C>T		intergenic_region

Ensembl

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

Frequencies

GnomAD3 genomes AF: 0.482 AC: 73174 AN: 151794 Hom.: 18574 Cov.: 32

Gnomad AFR AF: 0.311

Gnomad AMI AF: 0.408

Gnomad AMR AF: 0.553

Gnomad ASJ AF: 0.514

Gnomad EAS AF: 0.513

Gnomad SAS AF: 0.568

Gnomad FIN AF: 0.627

Gnomad MID AF: 0.411

Gnomad NFE AF: 0.539

Gnomad OTH AF: 0.471

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

GnomAD4 genome AF: 0.482 AC: 73225 AN: 151912 Hom.: 18590 Cov.: 32 AF XY: 0.491 AC XY: 36473 AN XY: 74216

Gnomad4 AFR AF: 0.311

Gnomad4 AMR AF: 0.553

Gnomad4 ASJ AF: 0.514

Gnomad4 EAS AF: 0.513

Gnomad4 SAS AF: 0.567

Gnomad4 FIN AF: 0.627

Gnomad4 NFE AF: 0.539

Gnomad4 OTH AF: 0.474

Alfa AF: 0.433 Hom.: 1887

Bravo AF: 0.467

Asia WGS AF: 0.538 AC: 1869 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	3.2
DANN	Benign	0.46

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs4397435; hg19: chr8-138367692;