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NM_018972.4(GDAP1):c.802_803del (p.Trp268fs) AND Peripheral neuropathy

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jul 10, 2021
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:
RCV001836931.9

Allele description [Variation Report for NM_018972.4(GDAP1):c.802_803del (p.Trp268fs)]

NM_018972.4(GDAP1):c.802_803del (p.Trp268fs)

Gene:
GDAP1:ganglioside induced differentiation associated protein 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
8q21.11
Genomic location:
Preferred name:
NM_018972.4(GDAP1):c.802_803del (p.Trp268fs)
HGVS:
  • NC_000008.11:g.74364092_74364093del
  • NG_008787.3:g.47963_47964del
  • NM_001040875.4:c.598_599del
  • NM_001362929.2:c.475_476del
  • NM_001362930.2:c.628_629del
  • NM_001362931.2:c.694+1039_694+1040del
  • NM_001362932.2:c.475_476del
  • NM_018972.4:c.802_803delMANE SELECT
  • NP_001035808.1:p.Trp200fs
  • NP_001349858.1:p.Trp159fs
  • NP_001349859.1:p.Trp210fs
  • NP_001349861.1:p.Trp159fs
  • NP_061845.2:p.Trp268fs
  • LRG_244t1:c.802_803del
  • LRG_244:g.47963_47964del
  • NC_000008.10:g.75276327_75276328del
  • NM_018972.2:c.802_803delTG
  • NM_018972.4:c.802_803delTGMANE SELECT
Protein change:
W159fs
Links:
dbSNP: rs765346218
NCBI 1000 Genomes Browser:
rs765346218
Molecular consequence:
  • NM_001040875.4:c.598_599del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001362929.2:c.475_476del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001362930.2:c.628_629del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001362932.2:c.475_476del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_018972.4:c.802_803del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001362931.2:c.694+1039_694+1040del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Peripheral neuropathy
Identifiers:
MONDO: MONDO:0005244; MedGen: C0031117; Human Phenotype Ontology: HP:0009830

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001167076Kariminejad - Najmabadi Pathology & Genetics Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jul 10, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical 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 Kariminejad - Najmabadi Pathology & Genetics Center, SCV001167076.1

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

Last Updated: Nov 3, 2024