14-94375029-A-G

Position:

• chr14-94375029-A-G

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 0.849 in 152,252 control chromosomes in the GnomAD database, including 55,329 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 0.85 (55329 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.270

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.949 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt

Ensembl

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

Frequencies

GnomAD3 genomes AF: 0.849 AC: 129137 AN: 152134 Hom.: 55266 Cov.: 33

Gnomad AFR AF: 0.956

Gnomad AMI AF: 0.800

Gnomad AMR AF: 0.870

Gnomad ASJ AF: 0.825

Gnomad EAS AF: 0.944

Gnomad SAS AF: 0.894

Gnomad FIN AF: 0.791

Gnomad MID AF: 0.866

Gnomad NFE AF: 0.779

Gnomad OTH AF: 0.858

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

GnomAD4 genome AF: 0.849 AC: 129259 AN: 152252 Hom.: 55329 Cov.: 33 AF XY: 0.853 AC XY: 63495 AN XY: 74440

Gnomad4 AFR AF: 0.956

Gnomad4 AMR AF: 0.870

Gnomad4 ASJ AF: 0.825

Gnomad4 EAS AF: 0.944

Gnomad4 SAS AF: 0.894

Gnomad4 FIN AF: 0.791

Gnomad4 NFE AF: 0.779

Gnomad4 OTH AF: 0.858

Alfa AF: 0.801 Hom.: 22326

Bravo AF: 0.860

Asia WGS AF: 0.907 AC: 3152 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	2.6
DANN	Benign	0.58

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs1243168; hg19: chr14-94841366;