NM_002382.5(MAX):c.403G>C (p.Asp135His) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 12, 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:: RCV002369845.2

Allele description [Variation Report for NM_002382.5(MAX):c.403G>C (p.Asp135His)]

NM_002382.5(MAX):c.403G>C (p.Asp135His)

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.403G>C (p.Asp135His)

HGVS:

NC_000014.9:g.65076556C>G
NG_029830.1:g.30954G>C
NM_001271069.2:c.144+17152G>C
NM_001320415.2:c.214G>C
NM_001407094.1:c.403G>C
NM_001407095.1:c.376G>C
NM_001407096.1:c.*176G>C
NM_001407097.1:c.*192G>C
NM_001407098.1:c.295G>C
NM_001407099.1:c.*176G>C
NM_001407100.1:c.*192G>C
NM_001407101.1:c.*192G>C
NM_001407102.1:c.*176G>C
NM_001407103.1:c.*192G>C
NM_001407104.1:c.*176G>C
NM_001407105.1:c.214G>C
NM_001407106.1:c.214G>C
NM_001407107.1:c.214G>C
NM_001407108.1:c.*176G>C
NM_001407109.1:c.*192G>C
NM_001407110.1:c.*192G>C
NM_001407111.1:c.202G>C
NM_001407112.1:c.202G>C
NM_002382.5:c.403G>CMANE SELECT
NM_145112.3:c.376G>C
NM_145113.3:c.*192G>C
NM_197957.4:c.171+17152G>C
NP_001307344.1:p.Asp72His
NP_001394023.1:p.Asp135His
NP_001394024.1:p.Asp126His
NP_001394027.1:p.Asp99His
NP_001394034.1:p.Asp72His
NP_001394035.1:p.Asp72His
NP_001394036.1:p.Asp72His
NP_001394040.1:p.Asp68His
NP_001394041.1:p.Asp68His
NP_002373.3:p.Asp135His
NP_002373.3:p.Asp135His
NP_660087.1:p.Asp126His
LRG_530t1:c.403G>C
LRG_530:g.30954G>C
LRG_530p1:p.Asp135His
NC_000014.8:g.65543274C>G
NM_002382.3:c.403G>C
NM_002382.4:c.403G>C
NR_073137.1:n.527G>C
NR_073137.2:n.527G>C
NR_176275.1:n.646G>C
NR_176278.1:n.376G>C
NR_176279.1:n.580G>C
NR_176280.1:n.545G>C
NR_176281.1:n.727G>C
NR_176282.1:n.450G>C

Protein change:

D126H

Links:

dbSNP: rs201312694

NCBI 1000 Genomes Browser:

rs201312694

Molecular consequence:

NM_145113.3:c.*192G>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001271069.2:c.144+17152G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_197957.4:c.171+17152G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001320415.2:c.214G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407094.1:c.403G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407095.1:c.376G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407098.1:c.295G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407105.1:c.214G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407106.1:c.214G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407107.1:c.214G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407111.1:c.202G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407112.1:c.202G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_002382.5:c.403G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_145112.3:c.376G>C - 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
SCV002625254	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Oct 12, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002625254

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Oct 12, 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, SCV002625254.2

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

Description

The p.D135H variant (also known as c.403G>C), located in coding exon 5 of the MAX gene, results from a G to C substitution at nucleotide position 403. The aspartic acid at codon 135 is replaced by histidine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious 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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