NM_022041.4(GAN):c.1447C>T (p.Gln483Ter) AND Giant axonal neuropathy 1

Germline classification:: Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:: Jan 6, 2016
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000005334.5

Allele description [Variation Report for NM_022041.4(GAN):c.1447C>T (p.Gln483Ter)]

NM_022041.4(GAN):c.1447C>T (p.Gln483Ter)

Gene:

GAN:gigaxonin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q23.2

Genomic location:

Preferred name:

NM_022041.4(GAN):c.1447C>T (p.Gln483Ter)

HGVS:

NC_000016.10:g.81365423C>T
NG_009007.1:g.55458C>T
NM_001377486.1:c.808C>T
NM_022041.3:c.1447C>T
NM_022041.4:c.1447C>TMANE SELECT
NP_001364415.1:p.Gln270Ter
NP_071324.1:p.Gln483Ter
LRG_242t1:c.1447C>T
LRG_242:g.55458C>T
NC_000016.9:g.81399028C>T

Protein change:

Q270*; GLN483TER

Links:

OMIM: 605379.0002; dbSNP: rs119485089

NCBI 1000 Genomes Browser:

rs119485089

Molecular consequence:

NM_001377486.1:c.808C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_022041.4:c.1447C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Giant axonal neuropathy 1 (GAN1)
Synonyms:: GIANT AXONAL NEUROPATHY 1, AUTOSOMAL RECESSIVE
Identifiers:: MONDO: MONDO:0009749; MedGen: C1850386; Orphanet: 643; OMIM: 256850

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000025512	OMIM	no assertion criteria provided	Pathogenic (Nov 1, 2000)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV004174491	Inherited Neuropathy Consortium Ii, University Of Miami	no assertion criteria provided	Uncertain significance (Jan 6, 2016)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000025512

OMIM

no assertion criteria provided

Pathogenic
(Nov 1, 2000)

germline

literature only

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

SCV004174491

Inherited Neuropathy Consortium Ii, University Of Miami

no assertion criteria provided

Uncertain significance
(Jan 6, 2016)

germline

literature only

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	germline	yes	not provided	not provided	not provided	not provided	not provided	literature only
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy.

Bomont P, Cavalier L, Blondeau F, Ben Hamida C, Belal S, Tazir M, Demir E, Topaloglu H, Korinthenberg R, Tüysüz B, Landrieu P, Hentati F, Koenig M.

Nat Genet. 2000 Nov;26(3):370-4.

PubMed [citation]

PMID:: 11062483

Details of each submission

From OMIM, SCV000025512.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

Bomont et al. (2000) found that affected members of a family with giant axonal neuropathy (GAN1; 256850) were homozygous for a nonsense mutation (gln483 to ter; Q483X) in the GAN gene.

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

From Inherited Neuropathy Consortium Ii, University Of Miami, SCV004174491.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

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

Last Updated: Feb 4, 2024

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