NM_001999.4(FBN2):c.1064G>A (p.Gly355Asp) 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:
RCV000162150.1

Allele description [Variation Report for NM_001999.4(FBN2):c.1064G>A (p.Gly355Asp)]

NM_001999.4(FBN2):c.1064G>A (p.Gly355Asp)

Gene:
FBN2:fibrillin 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q23.3
Genomic location:
Preferred name:
NM_001999.4(FBN2):c.1064G>A (p.Gly355Asp)
HGVS:
  • NC_000005.10:g.128408688C>T
  • NG_008750.1:g.134355G>A
  • NM_001999.4:c.1064G>AMANE SELECT
  • NP_001990.2:p.Gly355Asp
  • NC_000005.9:g.127744381C>T
  • NM_001999.3:c.1064G>A
Protein change:
G355D
Links:
dbSNP: rs730882230
NCBI 1000 Genomes Browser:
rs730882230
Molecular consequence:
  • NM_001999.4:c.1064G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Neonatal death
Synonyms:
Neonatal lethal
Identifiers:
MedGen: C0410916; Human Phenotype Ontology: HP:0003811
Name:
Fetal akinesia sequence
Synonyms:
Early severe fetal akinesia sequence; Fetal akinesia
Identifiers:
MedGen: C3151520; Human Phenotype Ontology: HP:0001989
Name:
Cerebral ischemia
Synonyms:
Brain ischemia; Cerebrovascular ischemia
Identifiers:
MONDO: MONDO:0005299; MedGen: C0917798; Human Phenotype Ontology: HP:0002637

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000196436Developmental 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, SCV000196436.1

    #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 7, 2021

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