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. Variant got -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

ACMG classification

Verdict is Benign. Variant got -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.

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: 0.868 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

Gnomad4 AFR AF: 0.762

Gnomad4 AMR AF: 0.910

Gnomad4 ASJ AF: 0.906

Gnomad4 EAS AF: 0.901

Gnomad4 SAS AF: 0.937

Gnomad4 FIN AF: 0.931

Gnomad4 NFE AF: 0.904

Gnomad4 OTH AF: 0.878

Alfa AF: 0.893 Hom.: 27661

Bravo AF: 0.861

Asia WGS AF: 0.920 AC: 3200 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs8019172; hg19: chr14-52645919;