NM_002382.5(MAX):c.375C>A (p.Asn125Lys) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 14, 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:: RCV003188028.2

Allele description [Variation Report for NM_002382.5(MAX):c.375C>A (p.Asn125Lys)]

NM_002382.5(MAX):c.375C>A (p.Asn125Lys)

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.375C>A (p.Asn125Lys)

HGVS:

NC_000014.9:g.65076584G>T
NG_029830.1:g.30926C>A
NM_001271069.2:c.144+17124C>A
NM_001320415.2:c.186C>A
NM_001407094.1:c.375C>A
NM_001407095.1:c.348C>A
NM_001407096.1:c.*148C>A
NM_001407097.1:c.*164C>A
NM_001407098.1:c.267C>A
NM_001407099.1:c.*148C>A
NM_001407100.1:c.*164C>A
NM_001407101.1:c.*164C>A
NM_001407102.1:c.*148C>A
NM_001407103.1:c.*164C>A
NM_001407104.1:c.*148C>A
NM_001407105.1:c.186C>A
NM_001407106.1:c.186C>A
NM_001407107.1:c.186C>A
NM_001407108.1:c.*148C>A
NM_001407109.1:c.*164C>A
NM_001407110.1:c.*164C>A
NM_001407111.1:c.174C>A
NM_001407112.1:c.174C>A
NM_002382.5:c.375C>AMANE SELECT
NM_145112.3:c.348C>A
NM_145113.3:c.*164C>A
NM_197957.4:c.171+17124C>A
NP_001307344.1:p.Asn62Lys
NP_001394023.1:p.Asn125Lys
NP_001394024.1:p.Asn116Lys
NP_001394027.1:p.Asn89Lys
NP_001394034.1:p.Asn62Lys
NP_001394035.1:p.Asn62Lys
NP_001394036.1:p.Asn62Lys
NP_001394040.1:p.Asn58Lys
NP_001394041.1:p.Asn58Lys
NP_002373.3:p.Asn125Lys
NP_002373.3:p.Asn125Lys
NP_660087.1:p.Asn116Lys
LRG_530t1:c.375C>A
LRG_530:g.30926C>A
LRG_530p1:p.Asn125Lys
NC_000014.8:g.65543302G>T
NM_002382.3:c.375C>A
NR_073137.2:n.499C>A
NR_176275.1:n.618C>A
NR_176278.1:n.348C>A
NR_176279.1:n.552C>A
NR_176280.1:n.517C>A
NR_176281.1:n.699C>A
NR_176282.1:n.422C>A

Protein change:

N116K

Molecular consequence:

NM_001407096.1:c.*148C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001407097.1:c.*164C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001407099.1:c.*148C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001407100.1:c.*164C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001407101.1:c.*164C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001407102.1:c.*148C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001407103.1:c.*164C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001407104.1:c.*148C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001407108.1:c.*148C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001407109.1:c.*164C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001407110.1:c.*164C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_145113.3:c.*164C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001271069.2:c.144+17124C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_197957.4:c.171+17124C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001320415.2:c.186C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407094.1:c.375C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407095.1:c.348C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407098.1:c.267C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407105.1:c.186C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407106.1:c.186C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407107.1:c.186C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407111.1:c.174C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407112.1:c.174C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_002382.5:c.375C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_145112.3:c.348C>A - missense variant - [Sequence Ontology: SO:0001583]
NR_073137.2:n.499C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176275.1:n.618C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176278.1:n.348C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176279.1:n.552C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176280.1:n.517C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176281.1:n.699C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176282.1:n.422C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV003866454	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Nov 14, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003866454

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Nov 14, 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, SCV003866454.2

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

Description

The p.N125K variant (also known as c.375C>A), located in coding exon 5 of the MAX gene, results from a C to A substitution at nucleotide position 375. The asparagine at codon 125 is replaced by lysine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. 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: May 1, 2024

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