14-94869154-A-G

Variant names:

• chr14-94869154-A-G
• rs11160219

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 rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	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;