NM_002382.5(MAX):c.376G>A (p.Ala126Thr) AND Hereditary pheochromocytoma-paraganglioma

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 26, 2024
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:: RCV000699033.6

Allele description [Variation Report for NM_002382.5(MAX):c.376G>A (p.Ala126Thr)]

NM_002382.5(MAX):c.376G>A (p.Ala126Thr)

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.376G>A (p.Ala126Thr)

HGVS:

NC_000014.9:g.65076583C>T
NG_029830.1:g.30927G>A
NM_001271069.2:c.144+17125G>A
NM_001320415.2:c.187G>A
NM_001407094.1:c.376G>A
NM_001407095.1:c.349G>A
NM_001407096.1:c.*149G>A
NM_001407097.1:c.*165G>A
NM_001407098.1:c.268G>A
NM_001407099.1:c.*149G>A
NM_001407100.1:c.*165G>A
NM_001407101.1:c.*165G>A
NM_001407102.1:c.*149G>A
NM_001407103.1:c.*165G>A
NM_001407104.1:c.*149G>A
NM_001407105.1:c.187G>A
NM_001407106.1:c.187G>A
NM_001407107.1:c.187G>A
NM_001407108.1:c.*149G>A
NM_001407109.1:c.*165G>A
NM_001407110.1:c.*165G>A
NM_001407111.1:c.175G>A
NM_001407112.1:c.175G>A
NM_002382.5:c.376G>AMANE SELECT
NM_145112.3:c.349G>A
NM_145113.3:c.*165G>A
NM_197957.4:c.171+17125G>A
NP_001307344.1:p.Ala63Thr
NP_001394023.1:p.Ala126Thr
NP_001394024.1:p.Ala117Thr
NP_001394027.1:p.Ala90Thr
NP_001394034.1:p.Ala63Thr
NP_001394035.1:p.Ala63Thr
NP_001394036.1:p.Ala63Thr
NP_001394040.1:p.Ala59Thr
NP_001394041.1:p.Ala59Thr
NP_002373.3:p.Ala126Thr
NP_002373.3:p.Ala126Thr
NP_660087.1:p.Ala117Thr
LRG_530t1:c.376G>A
LRG_530:g.30927G>A
LRG_530p1:p.Ala126Thr
NC_000014.8:g.65543301C>T
NM_002382.3:c.376G>A
NM_002382.4:c.376G>A
NR_073137.1:n.500G>A
NR_073137.2:n.500G>A
NR_176275.1:n.619G>A
NR_176278.1:n.349G>A
NR_176279.1:n.553G>A
NR_176280.1:n.518G>A
NR_176281.1:n.700G>A
NR_176282.1:n.423G>A

Protein change:

A117T

Links:

dbSNP: rs779789251

NCBI 1000 Genomes Browser:

rs779789251

Molecular consequence:

NM_145113.3:c.*165G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001271069.2:c.144+17125G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_197957.4:c.171+17125G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001320415.2:c.187G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407094.1:c.376G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407095.1:c.349G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407098.1:c.268G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407105.1:c.187G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407106.1:c.187G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407107.1:c.187G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407111.1:c.175G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407112.1:c.175G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_002382.5:c.376G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_145112.3:c.349G>A - 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
SCV000827727	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jan 26, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000827727

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jan 26, 2024)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

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

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000827727.4

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

Description

This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 126 of the MAX protein (p.Ala126Thr). This variant is present in population databases (rs779789251, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with MAX-related conditions. ClinVar contains an entry for this variant (Variation ID: 576522). Advanced modeling performed at Invitae incorporating data from internal and/or published experimental studies (Invitae) indicates that this missense variant is not expected to disrupt MAX function with a negative predictive value of 95%. 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

ClinVar

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