NM_002382.5(MAX):c.355G>A (p.Asp119Asn) AND Hereditary pheochromocytoma-paraganglioma

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 14, 2023
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:: RCV003870773.3

Allele description [Variation Report for NM_002382.5(MAX):c.355G>A (p.Asp119Asn)]

NM_002382.5(MAX):c.355G>A (p.Asp119Asn)

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.355G>A (p.Asp119Asn)

HGVS:

NC_000014.9:g.65076604C>T
NG_029830.1:g.30906G>A
NM_001271069.2:c.144+17104G>A
NM_001320415.2:c.166G>A
NM_001407094.1:c.355G>A
NM_001407095.1:c.328G>A
NM_001407096.1:c.*128G>A
NM_001407097.1:c.*144G>A
NM_001407098.1:c.247G>A
NM_001407099.1:c.*128G>A
NM_001407100.1:c.*144G>A
NM_001407101.1:c.*144G>A
NM_001407102.1:c.*128G>A
NM_001407103.1:c.*144G>A
NM_001407104.1:c.*128G>A
NM_001407105.1:c.166G>A
NM_001407106.1:c.166G>A
NM_001407107.1:c.166G>A
NM_001407108.1:c.*128G>A
NM_001407109.1:c.*144G>A
NM_001407110.1:c.*144G>A
NM_001407111.1:c.154G>A
NM_001407112.1:c.154G>A
NM_002382.5:c.355G>AMANE SELECT
NM_145112.3:c.328G>A
NM_145113.3:c.*144G>A
NM_197957.4:c.171+17104G>A
NP_001307344.1:p.Asp56Asn
NP_001394023.1:p.Asp119Asn
NP_001394024.1:p.Asp110Asn
NP_001394027.1:p.Asp83Asn
NP_001394034.1:p.Asp56Asn
NP_001394035.1:p.Asp56Asn
NP_001394036.1:p.Asp56Asn
NP_001394040.1:p.Asp52Asn
NP_001394041.1:p.Asp52Asn
NP_002373.3:p.Asp119Asn
NP_002373.3:p.Asp119Asn
NP_660087.1:p.Asp110Asn
LRG_530t1:c.355G>A
LRG_530:g.30906G>A
LRG_530p1:p.Asp119Asn
NC_000014.8:g.65543322C>T
NM_002382.3:c.355G>A
NR_073137.2:n.479G>A
NR_176275.1:n.598G>A
NR_176278.1:n.328G>A
NR_176279.1:n.532G>A
NR_176280.1:n.497G>A
NR_176281.1:n.679G>A
NR_176282.1:n.402G>A

Protein change:

D110N

Molecular consequence:

NM_001407096.1:c.*128G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001407097.1:c.*144G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001407099.1:c.*128G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001407100.1:c.*144G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001407101.1:c.*144G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001407102.1:c.*128G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001407103.1:c.*144G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001407104.1:c.*128G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001407108.1:c.*128G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001407109.1:c.*144G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001407110.1:c.*144G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_145113.3:c.*144G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001271069.2:c.144+17104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_197957.4:c.171+17104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001320415.2:c.166G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407094.1:c.355G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407095.1:c.328G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407098.1:c.247G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407105.1:c.166G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407106.1:c.166G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407107.1:c.166G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407111.1:c.154G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407112.1:c.154G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_002382.5:c.355G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_145112.3:c.328G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_073137.2:n.479G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176275.1:n.598G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176278.1:n.328G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176279.1:n.532G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176280.1:n.497G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176281.1:n.679G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176282.1:n.402G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV004677503	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jun 14, 2023)	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

SCV004677503

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jun 14, 2023)

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, SCV004677503.1

#	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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant¬†is likely to be tolerated. 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 aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 119 of the MAX protein (p.Asp119Asn).

#	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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