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

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 17, 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:: RCV003469156.1

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:: Pheochromocytoma
Synonyms:: Chromaffinoma; Chromaffin paraganglioma; Chromaffin tumor; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0008233; MedGen: C0031511; Orphanet: 29072; OMIM: 171300; Human Phenotype Ontology: HP:0002666

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004191935	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Sep 17, 2023)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004191935

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Sep 17, 2023)

unknown

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Baylor Genetics, SCV004191935.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 8, 2024

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