NM_002382.5(MAX):c.417C>G (p.Asp139Glu) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 7, 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:: RCV003303343.2

Allele description [Variation Report for NM_002382.5(MAX):c.417C>G (p.Asp139Glu)]

NM_002382.5(MAX):c.417C>G (p.Asp139Glu)

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.417C>G (p.Asp139Glu)

HGVS:

NC_000014.9:g.65076542G>C
NG_029830.1:g.30968C>G
NM_001271069.2:c.144+17166C>G
NM_001320415.2:c.228C>G
NM_001407094.1:c.417C>G
NM_001407095.1:c.390C>G
NM_001407096.1:c.*190C>G
NM_001407097.1:c.*206C>G
NM_001407098.1:c.309C>G
NM_001407099.1:c.*190C>G
NM_001407100.1:c.*206C>G
NM_001407101.1:c.*206C>G
NM_001407102.1:c.*190C>G
NM_001407103.1:c.*206C>G
NM_001407104.1:c.*190C>G
NM_001407105.1:c.228C>G
NM_001407106.1:c.228C>G
NM_001407107.1:c.228C>G
NM_001407108.1:c.*190C>G
NM_001407109.1:c.*206C>G
NM_001407110.1:c.*206C>G
NM_001407111.1:c.216C>G
NM_001407112.1:c.216C>G
NM_002382.5:c.417C>GMANE SELECT
NM_145112.3:c.390C>G
NM_145113.3:c.*206C>G
NM_197957.4:c.171+17166C>G
NP_001307344.1:p.Asp76Glu
NP_001394023.1:p.Asp139Glu
NP_001394024.1:p.Asp130Glu
NP_001394027.1:p.Asp103Glu
NP_001394034.1:p.Asp76Glu
NP_001394035.1:p.Asp76Glu
NP_001394036.1:p.Asp76Glu
NP_001394040.1:p.Asp72Glu
NP_001394041.1:p.Asp72Glu
NP_002373.3:p.Asp139Glu
NP_002373.3:p.Asp139Glu
NP_660087.1:p.Asp130Glu
LRG_530t1:c.417C>G
LRG_530:g.30968C>G
LRG_530p1:p.Asp139Glu
NC_000014.8:g.65543260G>C
NM_002382.3:c.417C>G
NR_073137.1:n.541C>G
NR_073137.2:n.541C>G
NR_176275.1:n.660C>G
NR_176278.1:n.390C>G
NR_176279.1:n.594C>G
NR_176280.1:n.559C>G
NR_176281.1:n.741C>G
NR_176282.1:n.464C>G

Protein change:

D103E

Links:

dbSNP: rs2139739918

NCBI 1000 Genomes Browser:

rs2139739918

Molecular consequence:

NM_145113.3:c.*206C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001271069.2:c.144+17166C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_197957.4:c.171+17166C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001320415.2:c.228C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407094.1:c.417C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407095.1:c.390C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407098.1:c.309C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407105.1:c.228C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407106.1:c.228C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407107.1:c.228C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407111.1:c.216C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407112.1:c.216C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_002382.5:c.417C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_145112.3:c.390C>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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Chain D, RbcX protein
Chain D, RbcX protein
gi|340780597|pdb|3RG6|D

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004000121	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (May 7, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004000121

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(May 7, 2023)

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, SCV004000121.2

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

Description

The p.D139E variant (also known as c.417C>G), located in coding exon 5 of the MAX gene, results from a C to G substitution at nucleotide position 417. The aspartic acid at codon 139 is replaced by glutamic acid, an amino acid with highly similar properties. This amino acid position is conserved. 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: Sep 29, 2024

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