NM_002382.5(MAX):c.19A>C (p.Ile7Leu) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 25, 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:: RCV003283501.2

Allele description [Variation Report for NM_002382.5(MAX):c.19A>C (p.Ile7Leu)]

NM_002382.5(MAX):c.19A>C (p.Ile7Leu)

Genes:

LOC130055850:ATAC-STARR-seq lymphoblastoid silent region 5847 [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.19A>C (p.Ile7Leu)

HGVS:

NC_000014.9:g.65102321T>G
NG_029830.1:g.5189A>C
NG_190271.1:g.320T>G
NM_001271068.2:c.19A>C
NM_001271069.2:c.19A>C
NM_001320415.2:c.-256A>C
NM_001407094.1:c.19A>C
NM_001407095.1:c.19A>C
NM_001407096.1:c.19A>C
NM_001407097.1:c.19A>C
NM_001407098.1:c.19A>C
NM_001407099.1:c.19A>C
NM_001407100.1:c.19A>C
NM_001407101.1:c.19A>C
NM_001407102.1:c.19A>C
NM_001407103.1:c.19A>C
NM_001407104.1:c.19A>C
NM_001407106.1:c.-239+188A>C
NM_001407107.1:c.-229A>C
NM_001407108.1:c.19A>C
NM_001407109.1:c.19A>C
NM_001407110.1:c.19A>C
NM_001407112.1:c.-305+188A>C
NM_001407113.1:c.19A>C
NM_002382.5:c.19A>CMANE SELECT
NM_145112.3:c.19A>C
NM_145113.3:c.19A>C
NM_145114.3:c.19A>C
NM_197957.4:c.19A>C
NP_001257997.1:p.Ile7Leu
NP_001257998.1:p.Ile7Leu
NP_001394023.1:p.Ile7Leu
NP_001394024.1:p.Ile7Leu
NP_001394025.1:p.Ile7Leu
NP_001394026.1:p.Ile7Leu
NP_001394027.1:p.Ile7Leu
NP_001394028.1:p.Ile7Leu
NP_001394029.1:p.Ile7Leu
NP_001394030.1:p.Ile7Leu
NP_001394031.1:p.Ile7Leu
NP_001394032.1:p.Ile7Leu
NP_001394033.1:p.Ile7Leu
NP_001394037.1:p.Ile7Leu
NP_001394038.1:p.Ile7Leu
NP_001394039.1:p.Ile7Leu
NP_001394042.1:p.Ile7Leu
NP_002373.3:p.Ile7Leu
NP_002373.3:p.Ile7Leu
NP_660087.1:p.Ile7Leu
NP_660088.1:p.Ile7Leu
NP_660089.1:p.Ile7Leu
NP_932061.1:p.Ile7Leu
LRG_530t1:c.19A>C
LRG_530:g.5189A>C
LRG_530p1:p.Ile7Leu
NC_000014.8:g.65569039T>G
NM_002382.3:c.19A>C

Protein change:

I7L

Molecular consequence:

NM_001320415.2:c.-256A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407107.1:c.-229A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407106.1:c.-239+188A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407112.1:c.-305+188A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001271068.2:c.19A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001271069.2:c.19A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407094.1:c.19A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407095.1:c.19A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407096.1:c.19A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407097.1:c.19A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407098.1:c.19A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407099.1:c.19A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407100.1:c.19A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407101.1:c.19A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407102.1:c.19A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407103.1:c.19A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407104.1:c.19A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407108.1:c.19A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407109.1:c.19A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407110.1:c.19A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407113.1:c.19A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_002382.5:c.19A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_145112.3:c.19A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_145113.3:c.19A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_145114.3:c.19A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_197957.4:c.19A>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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Xenopus laevis hypothetical protein MGC131035, mRNA (cDNA clone MGC:131035 IMAGE...
Xenopus laevis hypothetical protein MGC131035, mRNA (cDNA clone MGC:131035 IMAGE:7980473), complete cds
gi|80477228|gb|BC108562.1|

Nucleotide
xl11090H04F_1398398 Xenopus ORFeome version 1.0 library Xenopus laevis cDNA clon...
xl11090H04F_1398398 Xenopus ORFeome version 1.0 library Xenopus laevis cDNA clone xl11090H04 5', mRNA sequence
gi|798038666|gnl|dbEST|79656211|gb| 509.1|

Nucleotide
Xenopus laevis hypothetical protein LOC733220, mRNA (cDNA clone MGC:160151 IMAGE...
Xenopus laevis hypothetical protein LOC733220, mRNA (cDNA clone MGC:160151 IMAGE:8460768), complete cds
gi|125858104|gb|BC129517.1|

Nucleotide
Xenopus laevis MGC81562 protein, mRNA (cDNA clone MGC:81562 IMAGE:6863030), comp...
Xenopus laevis MGC81562 protein, mRNA (cDNA clone MGC:81562 IMAGE:6863030), complete cds
gi|51703447|gb|BC081009.1|

Nucleotide
Xenopus laevis MGC84356 protein, mRNA (cDNA clone MGC:84356 IMAGE:6958745), comp...
Xenopus laevis MGC84356 protein, mRNA (cDNA clone MGC:84356 IMAGE:6958745), complete cds
gi|51703648|gb|BC081178.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004007134	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Apr 25, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004007134

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Apr 25, 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, SCV004007134.2

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

Description

The p.I7L variant (also known as c.19A>C), located in coding exon 1 of the MAX gene, results from an A to C substitution at nucleotide position 19. The isoleucine at codon 7 is replaced by leucine, 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: May 1, 2024

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