rs8013053

Variant names:

• chr14-75323518-G-A
• rs8013053

Your query was ambiguous. Multiple possible variants found:

• chr14-75323518-G-A
• chr14-75323518-G-C
• chr14-75323518-G-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 0.824 in 152,186 control chromosomes in the GnomAD database, including 52,794 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 0.82 (52794 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.717

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 (AFR) allele frequency at 95% confidence interval = 0.901 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: 0.824 AC: 125261 AN: 152068 Hom.: 52771 Cov.: 32

Gnomad AFR AF: 0.909

Gnomad AMI AF: 0.802

Gnomad AMR AF: 0.715

Gnomad ASJ AF: 0.835

Gnomad EAS AF: 0.249

Gnomad SAS AF: 0.757

Gnomad FIN AF: 0.825

Gnomad MID AF: 0.882

Gnomad NFE AF: 0.844

Gnomad OTH AF: 0.823

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

GnomAD4 genome AF: 0.824 AC: 125332 AN: 152186 Hom.: 52794 Cov.: 32 AF XY: 0.815 AC XY: 60596 AN XY: 74396

Gnomad4 AFR AF: 0.909

Gnomad4 AMR AF: 0.715

Gnomad4 ASJ AF: 0.835

Gnomad4 EAS AF: 0.250

Gnomad4 SAS AF: 0.756

Gnomad4 FIN AF: 0.825

Gnomad4 NFE AF: 0.844

Gnomad4 OTH AF: 0.816

Alfa AF: 0.830 Hom.: 96844

Bravo AF: 0.818

Asia WGS AF: 0.548 AC: 1905 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	0.38
DANN	Benign	0.44

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs8013053; hg19: chr14-75790221;