8-137355449-C-T

Variant names:

• chr8-137355449-C-T
• rs4397435

Variant summary

Our verdict is Benign. The variant received -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
• Publications: 1 publications found

ACMG classification

Our verdict: Benign. The variant received -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

African (AFR) AF: 0.311 AC: 12892 AN: 41424

American (AMR) AF: 0.553 AC: 8443 AN: 15254

Ashkenazi Jewish (ASJ) AF: 0.514 AC: 1784 AN: 3470

East Asian (EAS) AF: 0.513 AC: 2633 AN: 5134

South Asian (SAS) AF: 0.567 AC: 2733 AN: 4822

European-Finnish (FIN) AF: 0.627 AC: 6597 AN: 10526

Middle Eastern (MID) AF: 0.411 AC: 120 AN: 292

European-Non Finnish (NFE) AF: 0.539 AC: 36650 AN: 67968

Other (OTH) AF: 0.474 AC: 1001 AN: 2110

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
PhyloP100		0.23

Splicing

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

Other links and lift over

dbSNP: rs4397435; hg19: chr8-138367692;