rs8019172

Variant names:

• chr14-52179201-A-C
• rs8019172

Your query was ambiguous. Multiple possible variants found:

• chr14-52179201-A-C
• chr14-52179201-A-G
• chr14-52179201-A-T

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 0.868 in 152,184 control chromosomes in the GnomAD database, including 57,658 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 0.87 (57658 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.161
• Publications: 4 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.97).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.914 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

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

Ensembl Transcripts

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

Frequencies

GnomAD3 genomes AF: 0.868 AC: 131938 AN: 152066 Hom.: 57623 Cov.: 32

Gnomad AFR AF: 0.761

Gnomad AMI AF: 0.758

Gnomad AMR AF: 0.910

Gnomad ASJ AF: 0.906

Gnomad EAS AF: 0.901

Gnomad SAS AF: 0.938

Gnomad FIN AF: 0.931

Gnomad MID AF: 0.911

Gnomad NFE AF: 0.904

Gnomad OTH AF: 0.877

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

GnomAD4 genome AF: 0.868 AC: 132029 AN: 152184 Hom.: 57658 Cov.: 32 AF XY: 0.871 AC XY: 64812 AN XY: 74402

African (AFR) AF: 0.762 AC: 31612 AN: 41510

American (AMR) AF: 0.910 AC: 13912 AN: 15288

Ashkenazi Jewish (ASJ) AF: 0.906 AC: 3144 AN: 3472

East Asian (EAS) AF: 0.901 AC: 4659 AN: 5172

South Asian (SAS) AF: 0.937 AC: 4512 AN: 4814

European-Finnish (FIN) AF: 0.931 AC: 9872 AN: 10606

Middle Eastern (MID) AF: 0.905 AC: 266 AN: 294

European-Non Finnish (NFE) AF: 0.904 AC: 61508 AN: 68006

Other (OTH) AF: 0.878 AC: 1853 AN: 2110

Alfa AF: 0.892 Hom.: 31002

Bravo AF: 0.861

Asia WGS AF: 0.920 AC: 3200 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.97
CADD	Benign	3.8
DANN	Benign	0.58
PhyloP100		0.16

Splicing

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

Other links and lift over

dbSNP: rs8019172; hg19: chr14-52645919;