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NM_212482.4(FN1):c.2442T>A (p.Pro814=) AND Glomerulopathy with fibronectin deposits 2

Germline classification:
Benign (1 submission)
Last evaluated:
Aug 10, 2021
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV001702113.2

Allele description [Variation Report for NM_212482.4(FN1):c.2442T>A (p.Pro814=)]

NM_212482.4(FN1):c.2442T>A (p.Pro814=)

Gene:
FN1:fibronectin 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q35
Genomic location:
Preferred name:
NM_212482.4(FN1):c.2442T>A (p.Pro814=)
HGVS:
  • NC_000002.12:g.215408184A>T
  • NG_012196.1:g.32885T>A
  • NM_001306129.2:c.2442T>A
  • NM_001306130.2:c.2442T>A
  • NM_001306131.2:c.2442T>A
  • NM_001306132.2:c.2442T>A
  • NM_001365517.2:c.2442T>A
  • NM_001365518.2:c.2442T>A
  • NM_001365519.2:c.2442T>A
  • NM_001365520.2:c.2442T>A
  • NM_001365521.2:c.2442T>A
  • NM_001365522.2:c.2442T>A
  • NM_001365523.2:c.2442T>A
  • NM_001365524.2:c.2442T>A
  • NM_002026.4:c.2442T>A
  • NM_212474.3:c.2442T>A
  • NM_212476.3:c.2442T>A
  • NM_212478.3:c.2442T>A
  • NM_212482.4:c.2442T>AMANE SELECT
  • NP_001293058.2:p.Pro814=
  • NP_001293059.2:p.Pro814=
  • NP_001293060.2:p.Pro814=
  • NP_001293061.2:p.Pro814=
  • NP_001352446.1:p.Pro814=
  • NP_001352447.1:p.Pro814=
  • NP_001352448.1:p.Pro814=
  • NP_001352449.1:p.Pro814=
  • NP_001352450.1:p.Pro814=
  • NP_001352451.1:p.Pro814=
  • NP_001352452.1:p.Pro814=
  • NP_001352453.1:p.Pro814=
  • NP_002017.2:p.Pro814=
  • NP_997639.2:p.Pro814=
  • NP_997641.2:p.Pro814=
  • NP_997643.2:p.Pro814=
  • NP_997647.2:p.Pro814=
  • NC_000002.11:g.216272907A>T
  • NM_212482.1:c.2442T>A
Links:
dbSNP: rs7596677
NCBI 1000 Genomes Browser:
rs7596677
Molecular consequence:
  • NM_001306129.2:c.2442T>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001306130.2:c.2442T>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001306131.2:c.2442T>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001306132.2:c.2442T>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001365517.2:c.2442T>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001365518.2:c.2442T>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001365519.2:c.2442T>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001365520.2:c.2442T>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001365521.2:c.2442T>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001365522.2:c.2442T>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001365523.2:c.2442T>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001365524.2:c.2442T>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_002026.4:c.2442T>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_212474.3:c.2442T>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_212476.3:c.2442T>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_212478.3:c.2442T>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_212482.4:c.2442T>A - synonymous variant - [Sequence Ontology: SO:0001819]

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001933569Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Aug 10, 2021) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Genome-Nilou Lab, SCV001933569.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024