NM_006432.3(NPC2):c.88G>A (p.Val30Met) AND multiple conditions

Clinical significance:Likely pathogenic (Last evaluated: Dec 1, 2014)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000162102.1

Allele description [Variation Report for NM_006432.3(NPC2):c.88G>A (p.Val30Met)]

NM_006432.3(NPC2):c.88G>A (p.Val30Met)

Gene:
NPC2:NPC intracellular cholesterol transporter 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q24.3
Genomic location:
Preferred name:
NM_006432.3(NPC2):c.88G>A (p.Val30Met)
HGVS:
  • NC_000014.9:g.74486431C>T
  • NG_007117.1:g.11951G>A
  • NM_006432.3:c.88G>A
  • NP_006423.1:p.Val30Met
  • NC_000014.8:g.74953134C>T
  • P61916:p.Val30Met
Protein change:
V30M
Links:
UniProtKB: P61916#VAR_043303; dbSNP: rs151220873
GMAF:
0.0010(T), 151220873
NCBI 1000 Genomes Browser:
rs151220873
Allele Frequency:
0.00311(T)
Molecular consequence:
  • NM_006432.3:c.88G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Global developmental delay (DD)
Synonyms:
Cognitive delay; Delayed cognitive development; Delayed development; See all synonyms [MedGen]
Identifiers:
MedGen: C0557874; Human Phenotype Ontology: HP:0001263
Name:
Seizures
Synonyms:
Seizure; Epilepsy
Identifiers:
MedGen: C0036572; Human Phenotype Ontology: HP:0001250
Name:
Microcephaly
Synonyms:
Reduced head circumference; Small head circumference; small calvarium; See all synonyms [MedGen]
Identifiers:
MedGen: C0424688; Human Phenotype Ontology: HP:0000252
Name:
Brain atrophy
Synonyms:
Brain degeneration; Brain wasting
Identifiers:
MedGen: C0235946; Human Phenotype Ontology: HP:0012444

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000196387Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centreno assertion criteria provided
    Likely pathogenic
    (Dec 1, 2014)
    germlineresearch

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

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedgermlineyesnot providednot providednot providednot providednot providedresearch

    Citations

    PubMed

    Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.

    Alazami AM, Patel N, Shamseldin HE, Anazi S, Al-Dosari MS, Alzahrani F, Hijazi H, Alshammari M, Aldahmesh MA, Salih MA, Faqeih E, Alhashem A, Bashiri FA, Al-Owain M, Kentab AY, Sogaty S, Al Tala S, Temsah MH, Tulbah M, Aljelaify RF, Alshahwan SA, Seidahmed MZ, et al.

    Cell Rep. 2015 Jan 13;10(2):148-61. doi: 10.1016/j.celrep.2014.12.015. Epub 2014 Dec 31.

    PubMed [citation]
    PMID:
    25558065

    Details of each submission

    From Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre, SCV000196387.1

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

    Last Updated: Oct 10, 2018