NM_212482.4(FN1):c.5735G>A (p.Arg1912His) AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 12, 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:: RCV002493599.1

Allele description [Variation Report for NM_212482.4(FN1):c.5735G>A (p.Arg1912His)]

NM_212482.4(FN1):c.5735G>A (p.Arg1912His)

Gene:

FN1:fibronectin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q35

Genomic location:

Preferred name:

NM_212482.4(FN1):c.5735G>A (p.Arg1912His)

HGVS:

NC_000002.12:g.215376650C>T
NG_012196.1:g.64419G>A
NM_001306129.2:c.5735G>A
NM_001306130.2:c.5465G>A
NM_001306131.2:c.5192G>A
NM_001306132.2:c.5192G>A
NM_001365517.2:c.5465G>A
NM_001365518.2:c.5462G>A
NM_001365519.2:c.5465G>A
NM_001365520.2:c.5462G>A
NM_001365521.2:c.5465G>A
NM_001365522.2:c.5465G>A
NM_001365523.2:c.5192G>A
NM_001365524.2:c.5462G>A
NM_002026.4:c.5462G>A
NM_212474.3:c.5192G>A
NM_212476.3:c.5192G>A
NM_212478.3:c.5462G>A
NM_212482.4:c.5735G>AMANE SELECT
NP_001293058.2:p.Arg1912His
NP_001293059.2:p.Arg1822His
NP_001293060.2:p.Arg1731His
NP_001293061.2:p.Arg1731His
NP_001352446.1:p.Arg1822His
NP_001352447.1:p.Arg1821His
NP_001352448.1:p.Arg1822His
NP_001352449.1:p.Arg1821His
NP_001352450.1:p.Arg1822His
NP_001352451.1:p.Arg1822His
NP_001352452.1:p.Arg1731His
NP_001352453.1:p.Arg1821His
NP_002017.2:p.Arg1821His
NP_997639.2:p.Arg1731His
NP_997641.2:p.Arg1731His
NP_997643.2:p.Arg1821His
NP_997647.2:p.Arg1912His
NC_000002.11:g.216241373C>T

Protein change:

R1731H

Links:

dbSNP: rs775421803

NCBI 1000 Genomes Browser:

rs775421803

Molecular consequence:

NM_001306129.2:c.5735G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001306130.2:c.5465G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001306131.2:c.5192G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001306132.2:c.5192G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001365517.2:c.5465G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001365518.2:c.5462G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001365519.2:c.5465G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001365520.2:c.5462G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001365521.2:c.5465G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001365522.2:c.5465G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001365523.2:c.5192G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001365524.2:c.5462G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_002026.4:c.5462G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_212474.3:c.5192G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_212476.3:c.5192G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_212478.3:c.5462G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_212482.4:c.5735G>A - 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

Name:: Spondylometaphyseal dysplasia - Sutcliffe type
Synonyms:: Sutcliffe type of spondylometaphyseal dysplasia; Sutcliffe SMD; Spondylometaphyseal dysplasia, 'corner fracture' type
Identifiers:: MONDO: MONDO:0008479; MedGen: C0432221; Orphanet: 93315; OMIM: 184255

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002784974	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Nov 12, 2021)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002784974

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Nov 12, 2021)

unknown

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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 Fulgent Genetics, Fulgent Genetics, SCV002784974.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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