rs8013053

Positions:

• 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/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	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;