NM_002382.5(MAX):c.25G>T (p.Val9Leu) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Mar 12, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000488919.1

Allele description [Variation Report for NM_002382.5(MAX):c.25G>T (p.Val9Leu)]

NM_002382.5(MAX):c.25G>T (p.Val9Leu)

Gene:
MAX:MYC associated factor X [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q23.3
Genomic location:
Preferred name:
NM_002382.5(MAX):c.25G>T (p.Val9Leu)
HGVS:
  • NC_000014.9:g.65102315C>A
  • NG_029830.1:g.5195G>T
  • NM_001271068.2:c.25G>T
  • NM_001271069.2:c.25G>T
  • NM_001320415.2:c.-250G>T
  • NM_002382.5:c.25G>TMANE SELECT
  • NM_145112.3:c.25G>T
  • NM_145113.3:c.25G>T
  • NM_145114.3:c.25G>T
  • NM_197957.4:c.25G>T
  • NP_001257997.1:p.Val9Leu
  • NP_001257998.1:p.Val9Leu
  • NP_002373.3:p.Val9Leu
  • NP_660087.1:p.Val9Leu
  • NP_660088.1:p.Val9Leu
  • NP_660089.1:p.Val9Leu
  • NP_932061.1:p.Val9Leu
  • LRG_530t1:c.25G>T
  • LRG_530:g.5195G>T
  • NC_000014.8:g.65569033C>A
  • NM_002382.3:c.25G>T
  • NM_002382.4:c.25G>T
Protein change:
V9L
Links:
dbSNP: rs201743423
NCBI 1000 Genomes Browser:
rs201743423
Molecular consequence:
  • NM_001320415.2:c.-250G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001271068.2:c.25G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001271069.2:c.25G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002382.5:c.25G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_145112.3:c.25G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_145113.3:c.25G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_145114.3:c.25G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_197957.4:c.25G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000576683GeneDxcriteria provided, single submitter
Uncertain significance
(Mar 12, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000576683.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant is denoted MAX c.25G>T at the cDNA level, p.Val9Leu (V9L) at the protein level, and results in the change of a Valine to a Leucine (GTG>TTG). This variant was has been reported in one individual with bilateral pheochromocytoma and in another individual with both a pheochromocytoma and paraganglioma (Burnichon 2012, Menara 2015). However, loss of heterozygosity (LOH) was not detected in the tumor of one of the individuals for which LOH was performed (Burnichon 2012). A luciferase reporter assay showed that this variant is unable to fully repress MYC activity compared to wildtype (Comino-Mendex 2015). MAX Val9Leu was observed at an allele frequency of 0.05% in individuals of Finnish ancestry in large population cohorts (Lek 2016). This variant is not located in a known functional domain. In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function. Based on currently available evidence, it is unclear whether MAX Val9Leu is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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