rs718433

Variant names:

• chr14-21767650-A-G
• rs718433

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 0.347 in 151,862 control chromosomes in the GnomAD database, including 9,389 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 0.35 (9389 hom., cov: 30)
• Consequence: TRA intragenic
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.668
• Publications: 7 publications found

Genes affected

TRA (HGNC:12027):

ACMG classification

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

• BP4: Computational evidence support a benign effect (Cadd=9.915).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.389 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: 0.347 AC: 52673 AN: 151742 Hom.: 9384 Cov.: 30

Gnomad AFR AF: 0.313

Gnomad AMI AF: 0.311

Gnomad AMR AF: 0.287

Gnomad ASJ AF: 0.393

Gnomad EAS AF: 0.217

Gnomad SAS AF: 0.279

Gnomad FIN AF: 0.358

Gnomad MID AF: 0.285

Gnomad NFE AF: 0.393

Gnomad OTH AF: 0.338

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

GnomAD4 genome AF: 0.347 AC: 52690 AN: 151862 Hom.: 9389 Cov.: 30 AF XY: 0.343 AC XY: 25425 AN XY: 74214

African (AFR) AF: 0.313 AC: 12964 AN: 41432

American (AMR) AF: 0.287 AC: 4376 AN: 15244

Ashkenazi Jewish (ASJ) AF: 0.393 AC: 1362 AN: 3470

East Asian (EAS) AF: 0.217 AC: 1120 AN: 5158

South Asian (SAS) AF: 0.279 AC: 1342 AN: 4812

European-Finnish (FIN) AF: 0.358 AC: 3774 AN: 10540

Middle Eastern (MID) AF: 0.299 AC: 88 AN: 294

European-Non Finnish (NFE) AF: 0.393 AC: 26667 AN: 67892

Other (OTH) AF: 0.338 AC: 714 AN: 2110

Alfa AF: 0.361 Hom.: 8809

Bravo AF: 0.339

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
CADD	Benign	9.9
PhyloP100		0.67

Splicing

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

Other links and lift over

dbSNP: rs718433;