14-94869154-A-G

Variant names:

• chr14-94869154-A-G
• rs11160219

Variant summary

Our verdict is Benign. The variant received -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
• Publications: 2 publications found

ACMG classification

Our verdict: Benign. The variant received -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.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

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

African (AFR) AF: 0.696 AC: 28769 AN: 41324

American (AMR) AF: 0.817 AC: 12465 AN: 15266

Ashkenazi Jewish (ASJ) AF: 0.791 AC: 2742 AN: 3466

East Asian (EAS) AF: 0.766 AC: 3941 AN: 5144

South Asian (SAS) AF: 0.855 AC: 4116 AN: 4816

European-Finnish (FIN) AF: 0.683 AC: 7180 AN: 10508

Middle Eastern (MID) AF: 0.881 AC: 259 AN: 294

European-Non Finnish (NFE) AF: 0.766 AC: 52014 AN: 67868

Other (OTH) AF: 0.778 AC: 1641 AN: 2110

Alfa AF: 0.766 Hom.: 190135

Bravo AF: 0.758

Asia WGS AF: 0.800 AC: 2782 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.11
DANN	Benign	0.36
PhyloP100		-2.3

Splicing

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

Other links and lift over

dbSNP: rs11160219; hg19: chr14-95335491;