NM_002382.5(MAX):c.219T>A (p.Tyr73Ter) AND Hereditary pheochromocytoma-paraganglioma

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 30, 2017
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:: RCV000639335.6

Allele description [Variation Report for NM_002382.5(MAX):c.219T>A (p.Tyr73Ter)]

NM_002382.5(MAX):c.219T>A (p.Tyr73Ter)

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.219T>A (p.Tyr73Ter)

HGVS:

NC_000014.9:g.65077989A>T
NG_029830.1:g.29521T>A
NM_001271069.2:c.144+15719T>A
NM_001320415.2:c.-56T>A
NM_001407094.1:c.219T>A
NM_001407095.1:c.192T>A
NM_001407096.1:c.219T>A
NM_001407097.1:c.219T>A
NM_001407098.1:c.111T>A
NM_001407099.1:c.192T>A
NM_001407100.1:c.192T>A
NM_001407101.1:c.192T>A
NM_001407102.1:c.192T>A
NM_001407103.1:c.219T>A
NM_001407104.1:c.219T>A
NM_001407105.1:c.-56T>A
NM_001407106.1:c.-56T>A
NM_001407107.1:c.-56T>A
NM_001407108.1:c.192T>A
NM_001407109.1:c.192T>A
NM_001407110.1:c.192T>A
NM_001407111.1:c.-149T>A
NM_001407112.1:c.-149T>A
NM_002382.5:c.219T>AMANE SELECT
NM_145112.3:c.192T>A
NM_145113.3:c.219T>A
NM_197957.4:c.171+15719T>A
NP_001394023.1:p.Tyr73Ter
NP_001394024.1:p.Tyr64Ter
NP_001394025.1:p.Tyr73Ter
NP_001394026.1:p.Tyr73Ter
NP_001394027.1:p.Tyr37Ter
NP_001394028.1:p.Tyr64Ter
NP_001394029.1:p.Tyr64Ter
NP_001394030.1:p.Tyr64Ter
NP_001394031.1:p.Tyr64Ter
NP_001394032.1:p.Tyr73Ter
NP_001394033.1:p.Tyr73Ter
NP_001394037.1:p.Tyr64Ter
NP_001394038.1:p.Tyr64Ter
NP_001394039.1:p.Tyr64Ter
NP_002373.3:p.Tyr73Ter
NP_002373.3:p.Tyr73Ter
NP_660087.1:p.Tyr64Ter
NP_660088.1:p.Tyr73Ter
LRG_530t1:c.219T>A
LRG_530:g.29521T>A
LRG_530p1:p.Tyr73Ter
NC_000014.8:g.65544707A>T
NM_002382.3:c.219T>A
NM_002382.4:c.219T>A
NR_073137.1:n.343T>A
NR_073137.2:n.343T>A
NR_176275.1:n.361T>A
NR_176278.1:n.192T>A
NR_176279.1:n.295T>A
NR_176280.1:n.361T>A
NR_176281.1:n.361T>A
NR_176282.1:n.165T>A

Protein change:

Y37*

Links:

dbSNP: rs1193255946

NCBI 1000 Genomes Browser:

rs1193255946

Molecular consequence:

NM_001320415.2:c.-56T>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001271069.2:c.144+15719T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_197957.4:c.171+15719T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407094.1:c.219T>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407095.1:c.192T>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407096.1:c.219T>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407097.1:c.219T>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407098.1:c.111T>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407099.1:c.192T>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407100.1:c.192T>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407101.1:c.192T>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407102.1:c.192T>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407103.1:c.219T>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407104.1:c.219T>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407108.1:c.192T>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407109.1:c.192T>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407110.1:c.192T>A - nonsense - [Sequence Ontology: SO:0001587]
NM_002382.5:c.219T>A - nonsense - [Sequence Ontology: SO:0001587]
NM_145112.3:c.192T>A - nonsense - [Sequence Ontology: SO:0001587]
NM_145113.3:c.219T>A - nonsense - [Sequence Ontology: SO:0001587]

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
SCV000760907	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Oct 30, 2017)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 21685915, 26070438, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000760907

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Oct 30, 2017)

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

Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma.

Comino-Méndez I, Gracia-Aznárez FJ, Schiavi F, Landa I, Leandro-García LJ, Letón R, Honrado E, Ramos-Medina R, Caronia D, Pita G, Gómez-Graña A, de Cubas AA, Inglada-Pérez L, Maliszewska A, Taschin E, Bobisse S, Pica G, Loli P, Hernández-Lavado R, Díaz JA, Gómez-Morales M, González-Neira A, et al.

Nat Genet. 2011 Jun 19;43(7):663-7. doi: 10.1038/ng.861.

PubMed [citation]

PMID:: 21685915

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 Invitae, SCV000760907.3

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

Description

For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in MAX are known to be pathogenic (PMID: 21685915, 26070438). This variant has not been reported in the literature in individuals with MAX-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr73*) in the MAX gene. It is expected to result in an absent or disrupted protein product.

#	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: Feb 20, 2024

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