14-94869154-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 0.751 in 151,706 control chromosomes in the GnomAD database, including 43,025 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 0.75 (43025 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.28

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.01).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.833 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: 0.751 AC: 113895 AN: 151588 Hom.: 43005 Cov.: 32

Gnomad AFR AF: 0.696

Gnomad AMI AF: 0.922

Gnomad AMR AF: 0.817

Gnomad ASJ AF: 0.791

Gnomad EAS AF: 0.766

Gnomad SAS AF: 0.855

Gnomad FIN AF: 0.683

Gnomad MID AF: 0.877

Gnomad NFE AF: 0.766

Gnomad OTH AF: 0.776

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

GnomAD4 genome AF: 0.751 AC: 113966 AN: 151706 Hom.: 43025 Cov.: 32 AF XY: 0.752 AC XY: 55746 AN XY: 74120

Gnomad4 AFR AF: 0.696

Gnomad4 AMR AF: 0.817

Gnomad4 ASJ AF: 0.791

Gnomad4 EAS AF: 0.766

Gnomad4 SAS AF: 0.855

Gnomad4 FIN AF: 0.683

Gnomad4 NFE AF: 0.766

Gnomad4 OTH AF: 0.778

Alfa AF: 0.771 Hom.: 91558

Bravo AF: 0.758

Asia WGS AF: 0.800 AC: 2782 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
Cadd	Benign	0.11
Dann	Benign	0.36

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs11160219; hg19: chr14-95335491;