NM_002382.5(MAX):c.385A>G (p.Ser129Gly) AND Hereditary pheochromocytoma-paraganglioma

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 18, 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:: RCV001320710.9

Allele description [Variation Report for NM_002382.5(MAX):c.385A>G (p.Ser129Gly)]

NM_002382.5(MAX):c.385A>G (p.Ser129Gly)

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.385A>G (p.Ser129Gly)

HGVS:

NC_000014.9:g.65076574T>C
NG_029830.1:g.30936A>G
NM_001271069.2:c.144+17134A>G
NM_001320415.2:c.196A>G
NM_001407094.1:c.385A>G
NM_001407095.1:c.358A>G
NM_001407096.1:c.*158A>G
NM_001407097.1:c.*174A>G
NM_001407098.1:c.277A>G
NM_001407099.1:c.*158A>G
NM_001407100.1:c.*174A>G
NM_001407101.1:c.*174A>G
NM_001407102.1:c.*158A>G
NM_001407103.1:c.*174A>G
NM_001407104.1:c.*158A>G
NM_001407105.1:c.196A>G
NM_001407106.1:c.196A>G
NM_001407107.1:c.196A>G
NM_001407108.1:c.*158A>G
NM_001407109.1:c.*174A>G
NM_001407110.1:c.*174A>G
NM_001407111.1:c.184A>G
NM_001407112.1:c.184A>G
NM_002382.5:c.385A>GMANE SELECT
NM_145112.3:c.358A>G
NM_145113.3:c.*174A>G
NM_197957.4:c.171+17134A>G
NP_001307344.1:p.Ser66Gly
NP_001394023.1:p.Ser129Gly
NP_001394024.1:p.Ser120Gly
NP_001394027.1:p.Ser93Gly
NP_001394034.1:p.Ser66Gly
NP_001394035.1:p.Ser66Gly
NP_001394036.1:p.Ser66Gly
NP_001394040.1:p.Ser62Gly
NP_001394041.1:p.Ser62Gly
NP_002373.3:p.Ser129Gly
NP_002373.3:p.Ser129Gly
NP_660087.1:p.Ser120Gly
LRG_530t1:c.385A>G
LRG_530:g.30936A>G
LRG_530p1:p.Ser129Gly
NC_000014.8:g.65543292T>C
NM_002382.3:c.385A>G
NR_073137.1:n.509A>G
NR_073137.2:n.509A>G
NR_176275.1:n.628A>G
NR_176278.1:n.358A>G
NR_176279.1:n.562A>G
NR_176280.1:n.527A>G
NR_176281.1:n.709A>G
NR_176282.1:n.432A>G

Protein change:

S120G

Links:

dbSNP: rs2063062255

NCBI 1000 Genomes Browser:

rs2063062255

Molecular consequence:

NM_145113.3:c.*174A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001271069.2:c.144+17134A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_197957.4:c.171+17134A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001320415.2:c.196A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407094.1:c.385A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407095.1:c.358A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407098.1:c.277A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407105.1:c.196A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407106.1:c.196A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407107.1:c.196A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407111.1:c.184A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407112.1:c.184A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_002382.5:c.385A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_145112.3:c.358A>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

Recent activity

Clear Turn Off Turn On

Conserved Domain Links for Structure (Select 25184) (3)
Conserved Domains

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001511506	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Feb 18, 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

SCV001511506

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Feb 18, 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, SCV001511506.4

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

Description

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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glycine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 1021025). This variant has not been reported in the literature in individuals affected with MAX-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 129 of the MAX protein (p.Ser129Gly).

#	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