14-75323518-G-A

Variant names:

• chr14-75323518-G-A
• rs8013053

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 0.824 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
• Publications: 6 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 (AFR) allele frequency at 95% confidence interval = 0.901 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: 0.824 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

African (AFR) AF: 0.909 AC: 37746 AN: 41534

American (AMR) AF: 0.715 AC: 10918 AN: 15278

Ashkenazi Jewish (ASJ) AF: 0.835 AC: 2896 AN: 3470

East Asian (EAS) AF: 0.250 AC: 1289 AN: 5166

South Asian (SAS) AF: 0.756 AC: 3649 AN: 4828

European-Finnish (FIN) AF: 0.825 AC: 8735 AN: 10586

Middle Eastern (MID) AF: 0.884 AC: 258 AN: 292

European-Non Finnish (NFE) AF: 0.844 AC: 57387 AN: 68008

Other (OTH) AF: 0.816 AC: 1723 AN: 2112

Alfa AF: 0.831 Hom.: 217526

Bravo AF: 0.818

Asia WGS AF: 0.548 AC: 1905 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	0.38
DANN	Benign	0.44
PhyloP100		-0.72

Splicing

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

MaxEntScan Visualizer can be used to analyze the impact of this mutation on the neighboring sequence.

Other links and lift over

dbSNP: rs8013053; hg19: chr14-75790221;