8-137355449-C-T

Variant names:

• chr8-137355449-C-T
• rs4397435

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: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.234

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 rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	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;