8-13629397-C-A

Position:

• chr8-13629397-C-A

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 0.406 in 151,174 control chromosomes in the GnomAD database, including 12,830 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 0.41 (12830 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0590

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.01).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.502 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

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

Frequencies

GnomAD3 genomes AF: 0.406 AC: 61393 AN: 151054 Hom.: 12820 Cov.: 31

Gnomad AFR AF: 0.508

Gnomad AMI AF: 0.398

Gnomad AMR AF: 0.289

Gnomad ASJ AF: 0.389

Gnomad EAS AF: 0.434

Gnomad SAS AF: 0.411

Gnomad FIN AF: 0.380

Gnomad MID AF: 0.394

Gnomad NFE AF: 0.375

Gnomad OTH AF: 0.378

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

GnomAD4 genome AF: 0.406 AC: 61449 AN: 151174 Hom.: 12830 Cov.: 31 AF XY: 0.405 AC XY: 29909 AN XY: 73816

Gnomad4 AFR AF: 0.508

Gnomad4 AMR AF: 0.289

Gnomad4 ASJ AF: 0.389

Gnomad4 EAS AF: 0.434

Gnomad4 SAS AF: 0.412

Gnomad4 FIN AF: 0.380

Gnomad4 NFE AF: 0.375

Gnomad4 OTH AF: 0.378

Alfa AF: 0.364 Hom.: 17869

Bravo AF: 0.402

Asia WGS AF: 0.399 AC: 1391 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	2.0
DANN	Benign	0.54

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7006666; hg19: chr8-13486906;