17-1345289-T-TAA
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Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP6_ModerateBA1
The NM_006761.5(YWHAE):c.*156_*157dupTT variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. Variant has been reported in ClinVar as Benign (★).
Frequency
Genomes: 𝑓 0.29 ( 4733 hom., cov: 0)
Exomes 𝑓: 0.17 ( 492 hom. )
Consequence
YWHAE
NM_006761.5 3_prime_UTR
NM_006761.5 3_prime_UTR
Scores
Not classified
Clinical Significance
Conservation
PhyloP100: 0.300
Genes affected
YWHAE (HGNC:12851): (tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon) This gene product belongs to the 14-3-3 family of proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 100% identical to the mouse ortholog. It interacts with CDC25 phosphatases, RAF1 and IRS1 proteins, suggesting its role in diverse biochemical activities related to signal transduction, such as cell division and regulation of insulin sensitivity. It has also been implicated in the pathogenesis of small cell lung cancer. Two transcript variants, one protein-coding and the other non-protein-coding, have been found for this gene. [provided by RefSeq, Aug 2008]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -10 ACMG points.
BP6
Variant 17-1345289-T-TAA is Benign according to our data. Variant chr17-1345289-T-TAA is described in ClinVar as [Benign]. Clinvar id is 1248679.Status of the report is criteria_provided_single_submitter, 1 stars.
BA1
GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.378 is higher than 0.05.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.285 AC: 35992AN: 126244Hom.: 4733 Cov.: 0
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GnomAD4 exome AF: 0.174 AC: 64585AN: 370622Hom.: 492 Cov.: 4 AF XY: 0.175 AC XY: 34022AN XY: 194556
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GnomAD4 genome AF: 0.285 AC: 35995AN: 126240Hom.: 4733 Cov.: 0 AF XY: 0.287 AC XY: 17297AN XY: 60240
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ClinVar
Significance: Benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | GeneDx | May 17, 2021 | - - |
Computational scores
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Find out detailed SpliceAI scores and Pangolin per-transcript scores at