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NM_018972.4(GDAP1):c.310+3A>G AND Charcot-Marie-Tooth disease

Germline classification:
Uncertain significance (1 submission)
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:
RCV000789165.1

Allele description [Variation Report for NM_018972.4(GDAP1):c.310+3A>G]

NM_018972.4(GDAP1):c.310+3A>G

Gene:
GDAP1:ganglioside induced differentiation associated protein 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8q21.11
Genomic location:
Preferred name:
NM_018972.4(GDAP1):c.310+3A>G
HGVS:
  • NC_000008.11:g.74351469A>G
  • NG_008787.3:g.35340A>G
  • NM_001040875.4:c.106+3A>G
  • NM_001362929.2:c.-18+148A>G
  • NM_001362930.2:c.310+3A>G
  • NM_001362931.2:c.310+3A>G
  • NM_001362932.2:c.-18+891A>G
  • NM_018972.4:c.310+3A>GMANE SELECT
  • LRG_244t1:c.310+3A>G
  • LRG_244:g.35340A>G
  • NC_000008.10:g.75263704A>G
  • NM_018972.2:c.310+3A>G
Links:
dbSNP: rs1586795495
NCBI 1000 Genomes Browser:
rs1586795495
Molecular consequence:
  • NM_001040875.4:c.106+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001362929.2:c.-18+148A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001362930.2:c.310+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001362931.2:c.310+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001362932.2:c.-18+891A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_018972.4:c.310+3A>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Charcot-Marie-Tooth disease
Synonyms:
Charcot-Marie-Tooth Neuropathy
Identifiers:
MONDO: MONDO:0015626; MedGen: C0007959; OMIM: PS118220

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000928517Inherited Neuropathy Consortium
no assertion criteria provided
Uncertain significancegermlineliterature 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

[Hereditary motor and sensory neuropathy type 4A].

Shagina OA, Dadali EL, Fedotov VP, Tiburkova TB, Poliakov AV.

Zh Nevrol Psikhiatr Im S S Korsakova. 2010;110(5 Pt 1):13-6. Russian.

PubMed [citation]
PMID:
21322820

Details of each submission

From Inherited Neuropathy Consortium, SCV000928517.1

#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: May 7, 2024