NM_002382.5(MAX):c.290A>C (p.Gln97Pro) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 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:: RCV002439802.2

Allele description [Variation Report for NM_002382.5(MAX):c.290A>C (p.Gln97Pro)]

NM_002382.5(MAX):c.290A>C (p.Gln97Pro)

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.290A>C (p.Gln97Pro)

HGVS:

NC_000014.9:g.65077918T>G
NG_029830.1:g.29592A>C
NM_001271069.2:c.144+15790A>C
NM_001320415.2:c.16A>C
NM_001407094.1:c.290A>C
NM_001407095.1:c.263A>C
NM_001407096.1:c.290A>C
NM_001407097.1:c.290A>C
NM_001407098.1:c.182A>C
NM_001407099.1:c.263A>C
NM_001407100.1:c.263A>C
NM_001407101.1:c.263A>C
NM_001407102.1:c.263A>C
NM_001407103.1:c.290A>C
NM_001407104.1:c.290A>C
NM_001407105.1:c.16A>C
NM_001407106.1:c.16A>C
NM_001407107.1:c.16A>C
NM_001407108.1:c.263A>C
NM_001407109.1:c.263A>C
NM_001407110.1:c.263A>C
NM_001407111.1:c.-78A>C
NM_001407112.1:c.-78A>C
NM_002382.5:c.290A>CMANE SELECT
NM_145112.3:c.263A>C
NM_145113.3:c.290A>C
NM_197957.4:c.171+15790A>C
NP_001307344.1:p.Ser6Arg
NP_001394023.1:p.Gln97Pro
NP_001394024.1:p.Gln88Pro
NP_001394025.1:p.Gln97Pro
NP_001394026.1:p.Gln97Pro
NP_001394027.1:p.Gln61Pro
NP_001394028.1:p.Gln88Pro
NP_001394029.1:p.Gln88Pro
NP_001394030.1:p.Gln88Pro
NP_001394031.1:p.Gln88Pro
NP_001394032.1:p.Gln97Pro
NP_001394033.1:p.Gln97Pro
NP_001394034.1:p.Ser6Arg
NP_001394035.1:p.Ser6Arg
NP_001394036.1:p.Ser6Arg
NP_001394037.1:p.Gln88Pro
NP_001394038.1:p.Gln88Pro
NP_001394039.1:p.Gln88Pro
NP_002373.3:p.Gln97Pro
NP_002373.3:p.Gln97Pro
NP_660087.1:p.Gln88Pro
NP_660088.1:p.Gln97Pro
LRG_530t1:c.290A>C
LRG_530:g.29592A>C
LRG_530p1:p.Gln97Pro
NC_000014.8:g.65544636T>G
NM_002382.3:c.290A>C
NR_073137.1:n.414A>C
NR_073137.2:n.414A>C
NR_176275.1:n.432A>C
NR_176278.1:n.263A>C
NR_176279.1:n.366A>C
NR_176280.1:n.432A>C
NR_176281.1:n.432A>C
NR_176282.1:n.236A>C

Protein change:

Q61P

Molecular consequence:

NM_001271069.2:c.144+15790A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_197957.4:c.171+15790A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001320415.2:c.16A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407094.1:c.290A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407095.1:c.263A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407096.1:c.290A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407097.1:c.290A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407098.1:c.182A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407099.1:c.263A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407100.1:c.263A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407101.1:c.263A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407102.1:c.263A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407103.1:c.290A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407104.1:c.290A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407105.1:c.16A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407106.1:c.16A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407107.1:c.16A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407108.1:c.263A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407109.1:c.263A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407110.1:c.263A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_002382.5:c.290A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_145112.3:c.263A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_145113.3:c.290A>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

Recent activity

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T Messier (2142)
MedGen
SH3-domain binding protein 4, partial [Aubria subsigillata]
SH3-domain binding protein 4, partial [Aubria subsigillata]
gi|1304833222|gb|AUD51886.1|

Protein
topA [Marinobacter salarius]
topA [Marinobacter salarius]
Gene ID:77258177

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002746877	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jan 12, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002746877

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jan 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, SCV002746877.2

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

Description

The p.Q97P variant (also known as c.290A>C), located in coding exon 4 of the MAX gene, results from an A to C substitution at nucleotide position 290. The glutamine at codon 97 is replaced by proline, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. 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: May 1, 2024

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