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NM_005476.7(GNE):c.1457T>C (p.Leu486Pro) AND Thrombocytopenia

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Feb 1, 2019
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:
RCV000852033.1

Allele description [Variation Report for NM_005476.7(GNE):c.1457T>C (p.Leu486Pro)]

NM_005476.7(GNE):c.1457T>C (p.Leu486Pro)

Gene:
GNE:glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9p13.3
Genomic location:
Preferred name:
NM_005476.7(GNE):c.1457T>C (p.Leu486Pro)
HGVS:
  • NC_000009.12:g.36222953A>G
  • NG_008246.1:g.59092T>C
  • NM_001128227.3:c.1550T>C
  • NM_001190383.3:c.1411+420T>C
  • NM_001190384.3:c.1127T>C
  • NM_001190388.2:c.1280T>C
  • NM_001374797.1:c.1304T>C
  • NM_001374798.1:c.1280T>C
  • NM_005476.7:c.1457T>CMANE SELECT
  • NP_001121699.1:p.Leu517Pro
  • NP_001177313.1:p.Leu376Pro
  • NP_001177317.2:p.Leu427Pro
  • NP_001361726.1:p.Leu435Pro
  • NP_001361727.1:p.Leu427Pro
  • NP_005467.1:p.Leu486Pro
  • LRG_1197t1:c.1550T>C
  • LRG_1197t2:c.1457T>C
  • LRG_1197:g.59092T>C
  • LRG_1197p1:p.Leu517Pro
  • LRG_1197p2:p.Leu486Pro
  • NC_000009.11:g.36222950A>G
  • NM_005476.5:c.1457T>C
Protein change:
L376P
Links:
dbSNP: rs774867424
NCBI 1000 Genomes Browser:
rs774867424
Molecular consequence:
  • NM_001190383.3:c.1411+420T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001128227.3:c.1550T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001190384.3:c.1127T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001190388.2:c.1280T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374797.1:c.1304T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374798.1:c.1280T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005476.7:c.1457T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Thrombocytopenia
Identifiers:
MONDO: MONDO:0002049; MeSH: D013921; MedGen: C0040034; Human Phenotype Ontology: HP:0001873

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000899509NIHR Bioresource Rare Diseases, University of Cambridge - ThromboGenomics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Feb 1, 2019) 		unknownresearch

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Europeanunknownyes1not providednot provided1not providedresearch

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

Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.

Downes K, Megy K, Duarte D, Vries M, Gebhart J, Hofer S, Shamardina O, Deevi SVV, Stephens J, Mapeta R, Tuna S, Al Hasso N, Besser MW, Cooper N, Daugherty L, Gleadall N, Greene D, Haimel M, Martin H, Papadia S, Revel-Vilk S, Sivapalaratnam S, et al.

Blood. 2019 Dec 5;134(23):2082-2091. doi: 10.1182/blood.2018891192.

PubMed [citation]
PMID:
31064749
PMCID:
PMC6993014

Details of each submission

From NIHR Bioresource Rare Diseases, University of Cambridge - ThromboGenomics, SCV000899509.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1European1not providednot providedresearch PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyes1not providednot provided1not providednot providednot provided

Last Updated: Sep 17, 2022