14-94330956-A-G

Variant names:

• chr14-94330956-A-G
• rs746530

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 0.631 in 151,344 control chromosomes in the GnomAD database, including 31,021 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 0.63 (31021 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.805

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.962 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: 0.631 AC: 95407 AN: 151224 Hom.: 31005 Cov.: 33

Gnomad AFR AF: 0.503

Gnomad AMI AF: 0.720

Gnomad AMR AF: 0.602

Gnomad ASJ AF: 0.530

Gnomad EAS AF: 0.985

Gnomad SAS AF: 0.717

Gnomad FIN AF: 0.682

Gnomad MID AF: 0.598

Gnomad NFE AF: 0.679

Gnomad OTH AF: 0.625

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

GnomAD4 genome AF: 0.631 AC: 95468 AN: 151344 Hom.: 31021 Cov.: 33 AF XY: 0.632 AC XY: 46717 AN XY: 73958

Gnomad4 AFR AF: 0.503

Gnomad4 AMR AF: 0.601

Gnomad4 ASJ AF: 0.530

Gnomad4 EAS AF: 0.985

Gnomad4 SAS AF: 0.717

Gnomad4 FIN AF: 0.682

Gnomad4 NFE AF: 0.679

Gnomad4 OTH AF: 0.630

Alfa AF: 0.665 Hom.: 48494

Bravo AF: 0.622

Asia WGS AF: 0.828 AC: 2739 AN: 3310

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	1.5
DANN	Benign	0.41

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs746530; hg19: chr14-94797293;