NM_002382.5(MAX):c.391A>G (p.Ile131Val) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 26, 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:: RCV001021434.4

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 cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001183051	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Sep 26, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001183051

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Sep 26, 2022)

germline

clinical testing

Citation Link

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

Details of each submission

From Ambry Genetics, SCV001183051.4

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

Description

The p.I131V variant (also known as c.391A>G), located in coding exon 5 of the MAX gene, results from an A to G substitution at nucleotide position 391. The isoleucine at codon 131 is replaced by valine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	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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