NM_002382.5(MAX):c.430T>C (p.Ser144Pro) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 18, 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:: RCV002331968.2

Allele description [Variation Report for NM_002382.5(MAX):c.430T>C (p.Ser144Pro)]

NM_002382.5(MAX):c.430T>C (p.Ser144Pro)

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.430T>C (p.Ser144Pro)

HGVS:

NC_000014.9:g.65076529A>G
NG_029830.1:g.30981T>C
NM_001271069.2:c.144+17179T>C
NM_001320415.2:c.241T>C
NM_001407094.1:c.430T>C
NM_001407095.1:c.403T>C
NM_001407096.1:c.*203T>C
NM_001407097.1:c.*219T>C
NM_001407098.1:c.322T>C
NM_001407099.1:c.*203T>C
NM_001407100.1:c.*219T>C
NM_001407101.1:c.*219T>C
NM_001407102.1:c.*203T>C
NM_001407103.1:c.*219T>C
NM_001407104.1:c.*203T>C
NM_001407105.1:c.241T>C
NM_001407106.1:c.241T>C
NM_001407107.1:c.241T>C
NM_001407108.1:c.*203T>C
NM_001407109.1:c.*219T>C
NM_001407110.1:c.*219T>C
NM_001407111.1:c.229T>C
NM_001407112.1:c.229T>C
NM_002382.5:c.430T>CMANE SELECT
NM_145112.3:c.403T>C
NM_145113.3:c.*219T>C
NM_197957.4:c.171+17179T>C
NP_001307344.1:p.Ser81Pro
NP_001394023.1:p.Ser144Pro
NP_001394024.1:p.Ser135Pro
NP_001394027.1:p.Ser108Pro
NP_001394034.1:p.Ser81Pro
NP_001394035.1:p.Ser81Pro
NP_001394036.1:p.Ser81Pro
NP_001394040.1:p.Ser77Pro
NP_001394041.1:p.Ser77Pro
NP_002373.3:p.Ser144Pro
NP_002373.3:p.Ser144Pro
NP_660087.1:p.Ser135Pro
LRG_530t1:c.430T>C
LRG_530:g.30981T>C
LRG_530p1:p.Ser144Pro
NC_000014.8:g.65543247A>G
NM_002382.3:c.430T>C
NR_073137.1:n.554T>C
NR_073137.2:n.554T>C
NR_176275.1:n.673T>C
NR_176278.1:n.403T>C
NR_176279.1:n.607T>C
NR_176280.1:n.572T>C
NR_176281.1:n.754T>C
NR_176282.1:n.477T>C

Protein change:

S108P

Molecular consequence:

NM_145113.3:c.*219T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001271069.2:c.144+17179T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_197957.4:c.171+17179T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001320415.2:c.241T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407094.1:c.430T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407095.1:c.403T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407098.1:c.322T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407105.1:c.241T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407106.1:c.241T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407107.1:c.241T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407111.1:c.229T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407112.1:c.229T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_002382.5:c.430T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_145112.3:c.403T>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

Clear Turn Off Turn On

Mus musculus zinc finger, CCHC domain containing 13 (Zcchc13), mRNA
Mus musculus zinc finger, CCHC domain containing 13 (Zcchc13), mRNA
gi|2187302942|ref|NM_029158.3|

Nucleotide

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002630927	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Feb 18, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002630927

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Feb 18, 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, SCV002630927.2

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

Description

The p.S144P variant (also known as c.430T>C), located in coding exon 5 of the MAX gene, results from a T to C substitution at nucleotide position 430. The serine at codon 144 is replaced by proline, 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

ClinVar

Relating variation to medicine