chr14-47914822-C-G

Variant names:

• chr14-47914822-C-G
• rs715994

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 0.0931 in 152,148 control chromosomes in the GnomAD database, including 1,133 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 0.093 (1133 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.116

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.88).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.383 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: 0.0930 AC: 14144 AN: 152030 Hom.: 1127 Cov.: 32

Gnomad AFR AF: 0.0228

Gnomad AMI AF: 0.0484

Gnomad AMR AF: 0.149

Gnomad ASJ AF: 0.112

Gnomad EAS AF: 0.398

Gnomad SAS AF: 0.246

Gnomad FIN AF: 0.109

Gnomad MID AF: 0.120

Gnomad NFE AF: 0.0858

Gnomad OTH AF: 0.110

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

GnomAD4 genome AF: 0.0931 AC: 14159 AN: 152148 Hom.: 1133 Cov.: 32 AF XY: 0.101 AC XY: 7511 AN XY: 74372

Gnomad4 AFR AF: 0.0228

Gnomad4 AMR AF: 0.149

Gnomad4 ASJ AF: 0.112

Gnomad4 EAS AF: 0.397

Gnomad4 SAS AF: 0.246

Gnomad4 FIN AF: 0.109

Gnomad4 NFE AF: 0.0858

Gnomad4 OTH AF: 0.120

Alfa AF: 0.0891 Hom.: 90

Bravo AF: 0.0915

Asia WGS AF: 0.343 AC: 1191 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.88
CADD	Benign	2.0
DANN	Benign	0.53

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs715994; hg19: chr14-48384025;