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NM_212482.4(FN1):c.260G>T (p.Cys87Phe) AND Spondylometaphyseal dysplasia

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Feb 25, 2017
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000509586.1

Allele description [Variation Report for NM_212482.4(FN1):c.260G>T (p.Cys87Phe)]

NM_212482.4(FN1):c.260G>T (p.Cys87Phe)

Gene:
FN1:fibronectin 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q35
Genomic location:
Preferred name:
NM_212482.4(FN1):c.260G>T (p.Cys87Phe)
HGVS:
  • NC_000002.12:g.215434713C>A
  • NG_012196.1:g.6356G>T
  • NM_001306129.2:c.260G>T
  • NM_001306130.2:c.260G>T
  • NM_001306131.2:c.260G>T
  • NM_001306132.2:c.260G>T
  • NM_001365517.2:c.260G>T
  • NM_001365518.2:c.260G>T
  • NM_001365519.2:c.260G>T
  • NM_001365520.2:c.260G>T
  • NM_001365521.2:c.260G>T
  • NM_001365522.2:c.260G>T
  • NM_001365523.2:c.260G>T
  • NM_001365524.2:c.260G>T
  • NM_002026.4:c.260G>T
  • NM_054034.3:c.260G>T
  • NM_212474.3:c.260G>T
  • NM_212476.3:c.260G>T
  • NM_212478.3:c.260G>T
  • NM_212482.4:c.260G>TMANE SELECT
  • NP_001293058.2:p.Cys87Phe
  • NP_001293059.2:p.Cys87Phe
  • NP_001293060.2:p.Cys87Phe
  • NP_001293061.2:p.Cys87Phe
  • NP_001352446.1:p.Cys87Phe
  • NP_001352447.1:p.Cys87Phe
  • NP_001352448.1:p.Cys87Phe
  • NP_001352449.1:p.Cys87Phe
  • NP_001352450.1:p.Cys87Phe
  • NP_001352451.1:p.Cys87Phe
  • NP_001352452.1:p.Cys87Phe
  • NP_001352453.1:p.Cys87Phe
  • NP_002017.2:p.Cys87Phe
  • NP_473375.2:p.Cys87Phe
  • NP_997639.2:p.Cys87Phe
  • NP_997641.2:p.Cys87Phe
  • NP_997643.2:p.Cys87Phe
  • NP_997647.1:p.Cys87Phe
  • NP_997647.2:p.Cys87Phe
  • NC_000002.11:g.216299436C>A
  • NM_212482.2:c.260G>T
  • NM_212482.3:c.260G>T
Protein change:
C87F; CYS87PHE
Links:
OMIM: 135600.0004; dbSNP: rs1553669703
NCBI 1000 Genomes Browser:
rs1553669703
Molecular consequence:
  • NM_001306129.2:c.260G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001306130.2:c.260G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001306131.2:c.260G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001306132.2:c.260G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365517.2:c.260G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365518.2:c.260G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365519.2:c.260G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365520.2:c.260G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365521.2:c.260G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365522.2:c.260G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365523.2:c.260G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365524.2:c.260G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002026.4:c.260G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_054034.3:c.260G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_212474.3:c.260G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_212476.3:c.260G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_212478.3:c.260G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_212482.4:c.260G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Spondylometaphyseal dysplasia
Identifiers:
MONDO: MONDO:0016763; MedGen: C4759767; OMIM: PS184255; Human Phenotype Ontology: HP:0002657

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000574553CHU Sainte-Justine Research Center, University of Montreal
no assertion criteria provided
Likely pathogenic
(Feb 25, 2017) 		germlineresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From CHU Sainte-Justine Research Center, University of Montreal, SCV000574553.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided

Description

6 Individuals with novel FN1 mutations and spondylometaphyseal dysplasia

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 29, 2023