14-94330956-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 0.631 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/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	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;