U.S. flag

An official website of the United States government

NM_212482.4(FN1):c.5775G>C (p.Trp1925Cys) AND Glomerulopathy with fibronectin deposits 2

Germline classification:
Pathogenic (1 submission)
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:
RCV000207361.2

Allele description [Variation Report for NM_212482.4(FN1):c.5775G>C (p.Trp1925Cys)]

NM_212482.4(FN1):c.5775G>C (p.Trp1925Cys)

Gene:
FN1:fibronectin 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q35
Genomic location:
Preferred name:
NM_212482.4(FN1):c.5775G>C (p.Trp1925Cys)
HGVS:
  • NC_000002.12:g.215376610C>G
  • NG_012196.1:g.64459G>C
  • NM_001306129.2:c.5775G>C
  • NM_001306130.2:c.5505G>C
  • NM_001306131.2:c.5232G>C
  • NM_001306132.2:c.5232G>C
  • NM_001365517.2:c.5505G>C
  • NM_001365518.2:c.5502G>C
  • NM_001365519.2:c.5505G>C
  • NM_001365520.2:c.5502G>C
  • NM_001365521.2:c.5505G>C
  • NM_001365522.2:c.5505G>C
  • NM_001365523.2:c.5232G>C
  • NM_001365524.2:c.5502G>C
  • NM_002026.4:c.5502G>C
  • NM_212474.3:c.5232G>C
  • NM_212476.3:c.5232G>C
  • NM_212478.3:c.5502G>C
  • NM_212482.4:c.5775G>CMANE SELECT
  • NP_001293058.2:p.Trp1925Cys
  • NP_001293059.2:p.Trp1835Cys
  • NP_001293060.2:p.Trp1744Cys
  • NP_001293061.2:p.Trp1744Cys
  • NP_001352446.1:p.Trp1835Cys
  • NP_001352447.1:p.Trp1834Cys
  • NP_001352448.1:p.Trp1835Cys
  • NP_001352449.1:p.Trp1834Cys
  • NP_001352450.1:p.Trp1835Cys
  • NP_001352451.1:p.Trp1835Cys
  • NP_001352452.1:p.Trp1744Cys
  • NP_001352453.1:p.Trp1834Cys
  • NP_002017.2:p.Trp1834Cys
  • NP_997639.2:p.Trp1744Cys
  • NP_997641.2:p.Trp1744Cys
  • NP_997643.2:p.Trp1834Cys
  • NP_997647.2:p.Trp1925Cys
  • NC_000002.11:g.216241333C>G
  • NM_212482.1:c.5775G>C
Protein change:
W1744C
Links:
dbSNP: rs869025198
NCBI 1000 Genomes Browser:
rs869025198
Molecular consequence:
  • NM_001306129.2:c.5775G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001306130.2:c.5505G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001306131.2:c.5232G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001306132.2:c.5232G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365517.2:c.5505G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365518.2:c.5502G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365519.2:c.5505G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365520.2:c.5502G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365521.2:c.5505G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365522.2:c.5505G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365523.2:c.5232G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365524.2:c.5502G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002026.4:c.5502G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_212474.3:c.5232G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_212476.3:c.5232G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_212478.3:c.5502G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_212482.4:c.5775G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Glomerulopathy with fibronectin deposits 2 (GFND2)
Synonyms:
Glomerular nephritis familial with fibronectin deposits
Identifiers:
MONDO: MONDO:0011165; MedGen: C1866075; Orphanet: 84090; OMIM: 601894

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000223739Pediatrics, Kobe University
no assertion criteria provided
Pathogenicinheritedresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Pediatrics, Kobe University, SCV000223739.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 15, 2024