NM_212482.4(FN1):c.773G>A (p.Cys258Tyr) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 6, 2017
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:: RCV000519100.1

Allele description [Variation Report for NM_212482.4(FN1):c.773G>A (p.Cys258Tyr)]

NM_212482.4(FN1):c.773G>A (p.Cys258Tyr)

Gene:

FN1:fibronectin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q35

Genomic location:

Preferred name:

NM_212482.4(FN1):c.773G>A (p.Cys258Tyr)

HGVS:

NC_000002.12:g.215428251C>T
NG_012196.1:g.12818G>A
NM_001306129.2:c.773G>A
NM_001306130.2:c.773G>A
NM_001306131.2:c.773G>A
NM_001306132.2:c.773G>A
NM_001365517.2:c.773G>A
NM_001365518.2:c.773G>A
NM_001365519.2:c.773G>A
NM_001365520.2:c.773G>A
NM_001365521.2:c.773G>A
NM_001365522.2:c.773G>A
NM_001365523.2:c.773G>A
NM_001365524.2:c.773G>A
NM_002026.4:c.773G>A
NM_054034.3:c.773G>A
NM_212474.3:c.773G>A
NM_212476.3:c.773G>A
NM_212478.3:c.773G>A
NM_212482.4:c.773G>AMANE SELECT
NP_001293058.2:p.Cys258Tyr
NP_001293059.2:p.Cys258Tyr
NP_001293060.2:p.Cys258Tyr
NP_001293061.2:p.Cys258Tyr
NP_001352446.1:p.Cys258Tyr
NP_001352447.1:p.Cys258Tyr
NP_001352448.1:p.Cys258Tyr
NP_001352449.1:p.Cys258Tyr
NP_001352450.1:p.Cys258Tyr
NP_001352451.1:p.Cys258Tyr
NP_001352452.1:p.Cys258Tyr
NP_001352453.1:p.Cys258Tyr
NP_002017.2:p.Cys258Tyr
NP_473375.2:p.Cys258Tyr
NP_997639.2:p.Cys258Tyr
NP_997641.2:p.Cys258Tyr
NP_997643.2:p.Cys258Tyr
NP_997647.2:p.Cys258Tyr
NC_000002.11:g.216292974C>T
NM_212482.1:c.773G>A
NM_212482.2:c.773G>A

Protein change:

C258Y

Links:

dbSNP: rs1553658948

NCBI 1000 Genomes Browser:

rs1553658948

Molecular consequence:

NM_001306129.2:c.773G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001306130.2:c.773G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001306131.2:c.773G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001306132.2:c.773G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001365517.2:c.773G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001365518.2:c.773G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001365519.2:c.773G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001365520.2:c.773G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001365521.2:c.773G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001365522.2:c.773G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001365523.2:c.773G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001365524.2:c.773G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_002026.4:c.773G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_054034.3:c.773G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_212474.3:c.773G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_212476.3:c.773G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_212478.3:c.773G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_212482.4:c.773G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000618609	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Uncertain significance (Jul 6, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000618609

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Uncertain significance
(Jul 6, 2017)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000618609.2

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

Description

The C258Y variant in the FN1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The C258Y variant is not observed in large population cohorts (Lek et al., 2016). The C258Y variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret C258Y as a variant of uncertain significance.

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

Last Updated: Apr 23, 2022

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