NM_002382.5(MAX):c.391A>G (p.Ile131Val) AND Hereditary pheochromocytoma-paraganglioma

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 9, 2022
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:: RCV001056198.8

Allele description [Variation Report for NM_002382.5(MAX):c.391A>G (p.Ile131Val)]

NM_002382.5(MAX):c.391A>G (p.Ile131Val)

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.391A>G (p.Ile131Val)

HGVS:

NC_000014.9:g.65076568T>C
NG_029830.1:g.30942A>G
NM_001271069.2:c.144+17140A>G
NM_001320415.2:c.202A>G
NM_001407094.1:c.391A>G
NM_001407095.1:c.364A>G
NM_001407096.1:c.*164A>G
NM_001407097.1:c.*180A>G
NM_001407098.1:c.283A>G
NM_001407099.1:c.*164A>G
NM_001407100.1:c.*180A>G
NM_001407101.1:c.*180A>G
NM_001407102.1:c.*164A>G
NM_001407103.1:c.*180A>G
NM_001407104.1:c.*164A>G
NM_001407105.1:c.202A>G
NM_001407106.1:c.202A>G
NM_001407107.1:c.202A>G
NM_001407108.1:c.*164A>G
NM_001407109.1:c.*180A>G
NM_001407110.1:c.*180A>G
NM_001407111.1:c.190A>G
NM_001407112.1:c.190A>G
NM_002382.5:c.391A>GMANE SELECT
NM_145112.3:c.364A>G
NM_145113.3:c.*180A>G
NM_197957.4:c.171+17140A>G
NP_001307344.1:p.Ile68Val
NP_001394023.1:p.Ile131Val
NP_001394024.1:p.Ile122Val
NP_001394027.1:p.Ile95Val
NP_001394034.1:p.Ile68Val
NP_001394035.1:p.Ile68Val
NP_001394036.1:p.Ile68Val
NP_001394040.1:p.Ile64Val
NP_001394041.1:p.Ile64Val
NP_002373.3:p.Ile131Val
NP_002373.3:p.Ile131Val
NP_660087.1:p.Ile122Val
LRG_530t1:c.391A>G
LRG_530:g.30942A>G
LRG_530p1:p.Ile131Val
NC_000014.8:g.65543286T>C
NM_002382.3:c.391A>G
NM_002382.4:c.391A>G
NR_073137.1:n.515A>G
NR_073137.2:n.515A>G
NR_176275.1:n.634A>G
NR_176278.1:n.364A>G
NR_176279.1:n.568A>G
NR_176280.1:n.533A>G
NR_176281.1:n.715A>G
NR_176282.1:n.438A>G

Protein change:

I122V

Links:

dbSNP: rs1595127131

NCBI 1000 Genomes Browser:

rs1595127131

Molecular consequence:

NM_145113.3:c.*180A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001271069.2:c.144+17140A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_197957.4:c.171+17140A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001320415.2:c.202A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407094.1:c.391A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407095.1:c.364A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407098.1:c.283A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407105.1:c.202A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407106.1:c.202A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407107.1:c.202A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407111.1:c.190A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407112.1:c.190A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_002382.5:c.391A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_145112.3:c.364A>G - 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
SCV001220625	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Apr 9, 2022)	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

SCV001220625

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Apr 9, 2022)

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, SCV001220625.5

#	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 isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 131 of the MAX protein (p.Ile131Val). This variant is not present in population databases (gnomAD no frequency). 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: 824378). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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

Relating variation to medicine