NM_001999.4(FBN2):c.6946A>T (p.Ile2316Phe) AND Craniosynostosis syndrome

Clinical significance:Uncertain significance (Last evaluated: Jul 28, 2017)

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:
RCV000581293.1

Allele description [Variation Report for NM_001999.4(FBN2):c.6946A>T (p.Ile2316Phe)]

NM_001999.4(FBN2):c.6946A>T (p.Ile2316Phe)

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.6946A>T (p.Ile2316Phe)
HGVS:
  • NC_000005.10:g.128286784T>A
  • NG_008750.1:g.256260A>T
  • NM_001999.4:c.6946A>TMANE SELECT
  • NP_001990.2:p.Ile2316Phe
  • NC_000005.9:g.127622476T>A
  • NM_001999.3:c.6946A>T
  • p.I2316F
Protein change:
I2316F
Links:
dbSNP: rs201220519
NCBI 1000 Genomes Browser:
rs201220519
Molecular consequence:
  • NM_001999.4:c.6946A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Craniosynostosis syndrome
Synonyms:
Craniosynostosis; Craniostenosis; Craniosyostosis; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015469; MeSH: D003398; MedGen: C0010278; OMIM: PS123100; Human Phenotype Ontology: HP:0001363

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000692235Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospitalno assertion criteria providedUncertain significance
(Jul 28, 2017)
germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital, SCV000692235.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 6, 2021

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