chr14-94691009-A-C

Position:

• chr14-94691009-A-C

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 0.244 in 152,014 control chromosomes in the GnomAD database, including 4,842 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 0.24 (4842 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.956

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.95).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.476 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: 0.244 AC: 37065 AN: 151896 Hom.: 4821 Cov.: 32

Gnomad AFR AF: 0.294

Gnomad AMI AF: 0.237

Gnomad AMR AF: 0.184

Gnomad ASJ AF: 0.164

Gnomad EAS AF: 0.492

Gnomad SAS AF: 0.300

Gnomad FIN AF: 0.177

Gnomad MID AF: 0.168

Gnomad NFE AF: 0.220

Gnomad OTH AF: 0.226

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

GnomAD4 genome AF: 0.244 AC: 37140 AN: 152014 Hom.: 4842 Cov.: 32 AF XY: 0.244 AC XY: 18096 AN XY: 74300

Gnomad4 AFR AF: 0.294

Gnomad4 AMR AF: 0.183

Gnomad4 ASJ AF: 0.164

Gnomad4 EAS AF: 0.492

Gnomad4 SAS AF: 0.301

Gnomad4 FIN AF: 0.177

Gnomad4 NFE AF: 0.220

Gnomad4 OTH AF: 0.231

Alfa AF: 0.208 Hom.: 2805

Bravo AF: 0.246

Asia WGS AF: 0.418 AC: 1449 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
CADD	Benign	0.43
DANN	Benign	0.33

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs9323914; hg19: chr14-95157346;