NM_002382.5(MAX):c.178C>T (p.Arg60Trp) AND Hereditary pheochromocytoma-paraganglioma

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 15, 2019
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV001218991.9

Allele description [Variation Report for NM_002382.5(MAX):c.178C>T (p.Arg60Trp)]

NM_002382.5(MAX):c.178C>T (p.Arg60Trp)

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.178C>T (p.Arg60Trp)

HGVS:

NC_000014.9:g.65078030G>A
NG_029830.1:g.29480C>T
NM_001271069.2:c.144+15678C>T
NM_001320415.2:c.-97C>T
NM_001407094.1:c.178C>T
NM_001407095.1:c.151C>T
NM_001407096.1:c.178C>T
NM_001407097.1:c.178C>T
NM_001407098.1:c.70C>T
NM_001407099.1:c.151C>T
NM_001407100.1:c.151C>T
NM_001407101.1:c.151C>T
NM_001407102.1:c.151C>T
NM_001407103.1:c.178C>T
NM_001407104.1:c.178C>T
NM_001407105.1:c.-97C>T
NM_001407106.1:c.-97C>T
NM_001407107.1:c.-97C>T
NM_001407108.1:c.151C>T
NM_001407109.1:c.151C>T
NM_001407110.1:c.151C>T
NM_001407111.1:c.-190C>T
NM_001407112.1:c.-190C>T
NM_002382.5:c.178C>TMANE SELECT
NM_145112.3:c.151C>T
NM_145113.3:c.178C>T
NM_197957.4:c.171+15678C>T
NP_001394023.1:p.Arg60Trp
NP_001394024.1:p.Arg51Trp
NP_001394025.1:p.Arg60Trp
NP_001394026.1:p.Arg60Trp
NP_001394027.1:p.Arg24Trp
NP_001394028.1:p.Arg51Trp
NP_001394029.1:p.Arg51Trp
NP_001394030.1:p.Arg51Trp
NP_001394031.1:p.Arg51Trp
NP_001394032.1:p.Arg60Trp
NP_001394033.1:p.Arg60Trp
NP_001394037.1:p.Arg51Trp
NP_001394038.1:p.Arg51Trp
NP_001394039.1:p.Arg51Trp
NP_002373.3:p.Arg60Trp
NP_002373.3:p.Arg60Trp
NP_660087.1:p.Arg51Trp
NP_660088.1:p.Arg60Trp
LRG_530t1:c.178C>T
LRG_530:g.29480C>T
LRG_530p1:p.Arg60Trp
NC_000014.8:g.65544748G>A
NM_002382.3:c.178C>T
NM_002382.4:c.178C>T
NR_073137.1:n.302C>T
NR_073137.2:n.302C>T
NR_176275.1:n.320C>T
NR_176278.1:n.151C>T
NR_176279.1:n.254C>T
NR_176280.1:n.320C>T
NR_176281.1:n.320C>T
NR_176282.1:n.124C>T

Protein change:

R24W

Links:

dbSNP: rs2063106124

NCBI 1000 Genomes Browser:

rs2063106124

Molecular consequence:

NM_001320415.2:c.-97C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001271069.2:c.144+15678C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_197957.4:c.171+15678C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407094.1:c.178C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407095.1:c.151C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407096.1:c.178C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407097.1:c.178C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407098.1:c.70C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407099.1:c.151C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407100.1:c.151C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407101.1:c.151C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407102.1:c.151C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407103.1:c.178C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407104.1:c.178C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407108.1:c.151C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407109.1:c.151C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407110.1:c.151C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_002382.5:c.178C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_145112.3:c.151C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_145113.3:c.178C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hereditary pheochromocytoma-paraganglioma
Synonyms:: Hereditary Paraganglioma-Pheochromocytoma Syndromes; Hereditary Paragangliomas and Pheochromocytomas
Identifiers:: MONDO: MONDO:0017366; MedGen: C1708353

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001390906	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jun 15, 2019)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 22452945, 26070438, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001390906

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jun 15, 2019)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

MAX mutations cause hereditary and sporadic pheochromocytoma and paraganglioma.

Burnichon N, Cascón A, Schiavi F, Morales NP, Comino-Méndez I, Abermil N, Inglada-Pérez L, de Cubas AA, Amar L, Barontini M, de Quirós SB, Bertherat J, Bignon YJ, Blok MJ, Bobisse S, Borrego S, Castellano M, Chanson P, Chiara MD, Corssmit EP, Giacchè M, de Krijger RR, et al.

Clin Cancer Res. 2012 May 15;18(10):2828-37. doi: 10.1158/1078-0432.CCR-12-0160. Epub 2012 Mar 27.

PubMed [citation]

PMID:: 22452945

Functional and in silico assessment of MAX variants of unknown significance.

Comino-Méndez I, Leandro-García LJ, Montoya G, Inglada-Pérez L, de Cubas AA, Currás-Freixes M, Tysoe C, Izatt L, Letón R, Gómez-Graña Á, Mancikova V, Apellániz-Ruiz M, Mannelli M, Schiavi F, Favier J, Gimenez-Roqueplo AP, Timmers HJ, Roncador G, Garcia JF, Rodríguez-Antona C, Robledo M, Cascón A.

J Mol Med (Berl). 2015 Nov;93(11):1247-55. doi: 10.1007/s00109-015-1306-y. Epub 2015 Jun 14.

PubMed [citation]

PMID:: 26070438

See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001390906.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

This sequence change replaces arginine with tryptophan at codon 60 of the MAX protein (p.Arg60Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual with clinical features of hereditary paraganglioma-pheochromocytoma (PGL-PCC) syndrome (PMID: 22452945). This variant has been reported to have conflicting or insufficient data to determine the effect on MAX protein function (PMID: 26070438). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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