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NM_212482.4(FN1):c.367T>C (p.Cys123Arg) 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:
RCV000509582.1

Allele description [Variation Report for NM_212482.4(FN1):c.367T>C (p.Cys123Arg)]

NM_212482.4(FN1):c.367T>C (p.Cys123Arg)

Gene:
FN1:fibronectin 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q35
Genomic location:
Preferred name:
NM_212482.4(FN1):c.367T>C (p.Cys123Arg)
HGVS:
  • NC_000002.12:g.215433372A>G
  • NG_012196.1:g.7697T>C
  • NM_001306129.2:c.367T>C
  • NM_001306130.2:c.367T>C
  • NM_001306131.2:c.367T>C
  • NM_001306132.2:c.367T>C
  • NM_001365517.2:c.367T>C
  • NM_001365518.2:c.367T>C
  • NM_001365519.2:c.367T>C
  • NM_001365520.2:c.367T>C
  • NM_001365521.2:c.367T>C
  • NM_001365522.2:c.367T>C
  • NM_001365523.2:c.367T>C
  • NM_001365524.2:c.367T>C
  • NM_002026.4:c.367T>C
  • NM_054034.3:c.367T>C
  • NM_212474.3:c.367T>C
  • NM_212476.3:c.367T>C
  • NM_212478.3:c.367T>C
  • NM_212482.4:c.367T>CMANE SELECT
  • NP_001293058.2:p.Cys123Arg
  • NP_001293059.2:p.Cys123Arg
  • NP_001293060.2:p.Cys123Arg
  • NP_001293061.2:p.Cys123Arg
  • NP_001352446.1:p.Cys123Arg
  • NP_001352447.1:p.Cys123Arg
  • NP_001352448.1:p.Cys123Arg
  • NP_001352449.1:p.Cys123Arg
  • NP_001352450.1:p.Cys123Arg
  • NP_001352451.1:p.Cys123Arg
  • NP_001352452.1:p.Cys123Arg
  • NP_001352453.1:p.Cys123Arg
  • NP_002017.2:p.Cys123Arg
  • NP_473375.2:p.Cys123Arg
  • NP_997639.2:p.Cys123Arg
  • NP_997641.2:p.Cys123Arg
  • NP_997643.2:p.Cys123Arg
  • NP_997647.2:p.Cys123Arg
  • NC_000002.11:g.216298095A>G
  • NC_000002.11:g.216298095A>G
  • NM_212482.2:c.367T>C
Protein change:
C123R; CYS123ARG
Links:
OMIM: 135600.0006; dbSNP: rs1553667072
NCBI 1000 Genomes Browser:
rs1553667072
Molecular consequence:
  • NM_001306129.2:c.367T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001306130.2:c.367T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001306131.2:c.367T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001306132.2:c.367T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365517.2:c.367T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365518.2:c.367T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365519.2:c.367T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365520.2:c.367T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365521.2:c.367T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365522.2:c.367T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365523.2:c.367T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365524.2:c.367T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002026.4:c.367T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_054034.3:c.367T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_212474.3:c.367T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_212476.3:c.367T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_212478.3:c.367T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_212482.4:c.367T>C - 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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000574554CHU Sainte-Justine Research Center, University of Montreal
no assertion criteria provided
Likely pathogenic
(Feb 25, 2017)
germlineresearch

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, SCV000574554.1

#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: Feb 14, 2024