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NM_016729.3(FOLR1):c.724T>A (p.Trp242Arg) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 25, 2014
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:
RCV000187424.1

Allele description [Variation Report for NM_016729.3(FOLR1):c.724T>A (p.Trp242Arg)]

NM_016729.3(FOLR1):c.724T>A (p.Trp242Arg)

Gene:
FOLR1:folate receptor alpha [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q13.4
Genomic location:
Preferred name:
NM_016729.3(FOLR1):c.724T>A (p.Trp242Arg)
Other names:
p.W242R:TGG>AGG
HGVS:
  • NC_000011.10:g.72196127T>A
  • NG_015863.1:g.11570T>A
  • NM_000802.3:c.724T>A
  • NM_016724.3:c.724T>A
  • NM_016725.3:c.724T>A
  • NM_016729.3:c.724T>AMANE SELECT
  • NP_000793.1:p.Trp242Arg
  • NP_057936.1:p.Trp242Arg
  • NP_057937.1:p.Trp242Arg
  • NP_057941.1:p.Trp242Arg
  • NC_000011.9:g.71907171T>A
  • NM_016725.2:c.724T>A
Protein change:
W242R
Links:
dbSNP: rs796052445
NCBI 1000 Genomes Browser:
rs796052445
Molecular consequence:
  • NM_000802.3:c.724T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_016724.3:c.724T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_016725.3:c.724T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_016729.3:c.724T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000241012GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Jun 25, 2014) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000241012.10

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

p.Trp242Arg (TGG>AGG): c.724 T>A in exon 5 of the FOLR1 gene (NM_016725.2: )A variant of unknown significance has been identified in the FOLR1 gene. The W242R variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The W242R 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. However, this substitution occurs at a position that is not conserved, and an Arginine residue is seen at this position in evolution. In silico analysis predicts this variant likely does not alter the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in EPILEPSY panel(s).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024