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NM_022041.4(GAN):c.343_360del (p.Thr115_Leu120del) AND Giant axonal neuropathy 1

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Dec 22, 2020
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:
RCV000789635.2

Allele description [Variation Report for NM_022041.4(GAN):c.343_360del (p.Thr115_Leu120del)]

NM_022041.4(GAN):c.343_360del (p.Thr115_Leu120del)

Gene:
GAN:gigaxonin [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
16q23.2
Genomic location:
Preferred name:
NM_022041.4(GAN):c.343_360del (p.Thr115_Leu120del)
HGVS:
  • NC_000016.10:g.81354465_81354482del
  • NG_009007.1:g.44500_44517del
  • NM_001377486.1:c.-297_-280del
  • NM_022041.4:c.343_360delMANE SELECT
  • NP_071324.1:p.Thr115_Leu120del
  • NP_071324.1:p.Thr115_Leu120del
  • LRG_242t1:c.343_360del
  • LRG_242:g.44500_44517del
  • LRG_242p1:p.Thr115_Leu120del
  • NC_000016.9:g.81388070_81388087del
  • NM_022041.3:c.343_360del
  • NM_022041.4:c.340_357delMANE SELECT
Links:
dbSNP: rs1597401516
NCBI 1000 Genomes Browser:
rs1597401516
Molecular consequence:
  • NM_001377486.1:c.-297_-280del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_022041.4:c.343_360del - inframe_deletion - [Sequence Ontology: SO:0001822]

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000929006Inherited Neuropathy Consortium
no assertion criteria provided
Uncertain significancegermlineliterature only

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

SCV004174495Inherited Neuropathy Consortium Ii, University Of Miami
no assertion criteria provided
Uncertain significance
(Dec 22, 2020) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Identification of seven novel mutations in the GAN gene.

Bomont P, Ioos C, Yalcinkaya C, Korinthenberg R, Vallat JM, Assami S, Munnich A, Chabrol B, Kurlemann G, Tazir M, Koenig M.

Hum Mutat. 2003 Apr;21(4):446.

PubMed [citation]
PMID:
12655563

Details of each submission

From Inherited Neuropathy Consortium, SCV000929006.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Inherited Neuropathy Consortium Ii, University Of Miami, SCV004174495.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 17, 2023