chr14-47914822-C-G

Variant names:

• chr14-47914822-C-G
• rs715994

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 0.0931 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
• Publications: 5 publications found

ACMG classification

Our verdict: Benign. The variant received -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

African (AFR) AF: 0.0228 AC: 947 AN: 41526

American (AMR) AF: 0.149 AC: 2274 AN: 15270

Ashkenazi Jewish (ASJ) AF: 0.112 AC: 387 AN: 3470

East Asian (EAS) AF: 0.397 AC: 2047 AN: 5154

South Asian (SAS) AF: 0.246 AC: 1187 AN: 4818

European-Finnish (FIN) AF: 0.109 AC: 1151 AN: 10586

Middle Eastern (MID) AF: 0.122 AC: 36 AN: 294

European-Non Finnish (NFE) AF: 0.0858 AC: 5834 AN: 68012

Other (OTH) AF: 0.120 AC: 252 AN: 2108

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
PhyloP100		-0.12

Splicing

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

Other links and lift over

dbSNP: rs715994; hg19: chr14-48384025;