NM_212482.4(FN1):c.3083G>A (p.Arg1028Gln) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 4, 2023
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:: RCV001984020.6

Allele description [Variation Report for NM_212482.4(FN1):c.3083G>A (p.Arg1028Gln)]

NM_212482.4(FN1):c.3083G>A (p.Arg1028Gln)

Gene:

FN1:fibronectin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q35

Genomic location:

Preferred name:

NM_212482.4(FN1):c.3083G>A (p.Arg1028Gln)

HGVS:

NC_000002.12:g.215404559C>T
NG_012196.1:g.36510G>A
NM_001306129.2:c.3083G>A
NM_001306130.2:c.3083G>A
NM_001306131.2:c.3083G>A
NM_001306132.2:c.3083G>A
NM_001365517.2:c.3083G>A
NM_001365518.2:c.3083G>A
NM_001365519.2:c.3083G>A
NM_001365520.2:c.3083G>A
NM_001365521.2:c.3083G>A
NM_001365522.2:c.3083G>A
NM_001365523.2:c.3083G>A
NM_001365524.2:c.3083G>A
NM_002026.4:c.3083G>A
NM_212474.3:c.3083G>A
NM_212476.3:c.3083G>A
NM_212478.3:c.3083G>A
NM_212482.4:c.3083G>AMANE SELECT
NP_001293058.2:p.Arg1028Gln
NP_001293059.2:p.Arg1028Gln
NP_001293060.2:p.Arg1028Gln
NP_001293061.2:p.Arg1028Gln
NP_001352446.1:p.Arg1028Gln
NP_001352447.1:p.Arg1028Gln
NP_001352448.1:p.Arg1028Gln
NP_001352449.1:p.Arg1028Gln
NP_001352450.1:p.Arg1028Gln
NP_001352451.1:p.Arg1028Gln
NP_001352452.1:p.Arg1028Gln
NP_001352453.1:p.Arg1028Gln
NP_002017.2:p.Arg1028Gln
NP_997639.2:p.Arg1028Gln
NP_997641.2:p.Arg1028Gln
NP_997643.2:p.Arg1028Gln
NP_997647.2:p.Arg1028Gln
NC_000002.11:g.216269282C>T

Protein change:

R1028Q

Links:

dbSNP: rs1189574802

NCBI 1000 Genomes Browser:

rs1189574802

Molecular consequence:

NM_001306129.2:c.3083G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001306130.2:c.3083G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001306131.2:c.3083G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001306132.2:c.3083G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001365517.2:c.3083G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001365518.2:c.3083G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001365519.2:c.3083G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001365520.2:c.3083G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001365521.2:c.3083G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001365522.2:c.3083G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001365523.2:c.3083G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001365524.2:c.3083G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_002026.4:c.3083G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_212474.3:c.3083G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_212476.3:c.3083G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_212478.3:c.3083G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_212482.4:c.3083G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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Arabidopsis thaliana Glycosyl hydrolase superfamily protein (MAN2), mRNA
Arabidopsis thaliana Glycosyl hydrolase superfamily protein (MAN2), mRNA
gi|1063700896|ref|NM_127632.3|

Nucleotide
sodium-independent sulfate anion transporter [Homo sapiens]
sodium-independent sulfate anion transporter [Homo sapiens]
gi|262206063|ref|NP_001159819.1|

Protein
Profile neighbors for GEO Profiles (Select 132535204) (89)
GEO Profiles
Profile neighbors for GEO Profiles (Select 132128605) (199)
GEO Profiles
Chromosome neighbors for GEO Profiles (Select 121755403) (20)
GEO Profiles

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002280870	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Aug 4, 2023)	germline	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

SCV002280870

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Aug 4, 2023)

germline

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	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002280870.3

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

Description

This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 1028 of the FN1 protein (p.Arg1028Gln). This variant is present in population databases (no rsID available, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with FN1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1492983). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The glutamine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: Sep 29, 2024

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