NM_002382.5(MAX):c.341A>C (p.Asn114Thr) AND Hereditary cancer-predisposing syndrome

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jan 11, 2019
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:: RCV000562371.4

Allele description [Variation Report for NM_002382.5(MAX):c.341A>C (p.Asn114Thr)]

NM_002382.5(MAX):c.341A>C (p.Asn114Thr)

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.341A>C (p.Asn114Thr)

HGVS:

NC_000014.9:g.65076618T>G
NG_029830.1:g.30892A>C
NM_001271069.2:c.144+17090A>C
NM_001320415.2:c.152A>C
NM_001407094.1:c.341A>C
NM_001407095.1:c.314A>C
NM_001407096.1:c.*114A>C
NM_001407097.1:c.*130A>C
NM_001407098.1:c.233A>C
NM_001407099.1:c.*114A>C
NM_001407100.1:c.*130A>C
NM_001407101.1:c.*130A>C
NM_001407102.1:c.*114A>C
NM_001407103.1:c.*130A>C
NM_001407104.1:c.*114A>C
NM_001407105.1:c.152A>C
NM_001407106.1:c.152A>C
NM_001407107.1:c.152A>C
NM_001407108.1:c.*114A>C
NM_001407109.1:c.*130A>C
NM_001407110.1:c.*130A>C
NM_001407111.1:c.140A>C
NM_001407112.1:c.140A>C
NM_002382.5:c.341A>CMANE SELECT
NM_145112.3:c.314A>C
NM_145113.3:c.*130A>C
NM_197957.4:c.171+17090A>C
NP_001307344.1:p.Asn51Thr
NP_001394023.1:p.Asn114Thr
NP_001394024.1:p.Asn105Thr
NP_001394027.1:p.Asn78Thr
NP_001394034.1:p.Asn51Thr
NP_001394035.1:p.Asn51Thr
NP_001394036.1:p.Asn51Thr
NP_001394040.1:p.Asn47Thr
NP_001394041.1:p.Asn47Thr
NP_002373.3:p.Asn114Thr
NP_002373.3:p.Asn114Thr
NP_660087.1:p.Asn105Thr
LRG_530t1:c.341A>C
LRG_530:g.30892A>C
LRG_530p1:p.Asn114Thr
NC_000014.8:g.65543336T>G
NM_002382.3:c.341A>C
NM_002382.4:c.341A>C
NR_073137.1:n.465A>C
NR_073137.2:n.465A>C
NR_176275.1:n.584A>C
NR_176278.1:n.314A>C
NR_176279.1:n.518A>C
NR_176280.1:n.483A>C
NR_176281.1:n.665A>C
NR_176282.1:n.388A>C

Protein change:

N105T

Links:

dbSNP: rs772912674

NCBI 1000 Genomes Browser:

rs772912674

Molecular consequence:

NM_145113.3:c.*130A>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001271069.2:c.144+17090A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_197957.4:c.171+17090A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001320415.2:c.152A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407094.1:c.341A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407095.1:c.314A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407098.1:c.233A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407105.1:c.152A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407106.1:c.152A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407107.1:c.152A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407111.1:c.140A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407112.1:c.140A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_002382.5:c.341A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_145112.3:c.314A>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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Russula large subunit ribosomal RNA gene, partial sequence.
Russula large subunit ribosomal RNA gene, partial sequence.
PopSet: 1229452871

PopSet
uncharacterized protein [Saccharomyces cerevisiae S288C]
uncharacterized protein [Saccharomyces cerevisiae S288C]
Gene ID:854228

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000664519	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Likely benign (Jan 11, 2019)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000664519

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Likely benign
(Jan 11, 2019)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

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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

Citations

PubMed

Functional and in silico assessment of MAX variants of unknown significance.

Comino-Méndez I, Leandro-García LJ, Montoya G, Inglada-Pérez L, de Cubas AA, Currás-Freixes M, Tysoe C, Izatt L, Letón R, Gómez-Graña Á, Mancikova V, Apellániz-Ruiz M, Mannelli M, Schiavi F, Favier J, Gimenez-Roqueplo AP, Timmers HJ, Roncador G, Garcia JF, Rodríguez-Antona C, Robledo M, Cascón A.

J Mol Med (Berl). 2015 Nov;93(11):1247-55. doi: 10.1007/s00109-015-1306-y. Epub 2015 Jun 14.

PubMed [citation]

PMID:: 26070438

Details of each submission

From Ambry Genetics, SCV000664519.5

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#	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: Oct 8, 2024

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