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NM_016729.3(FOLR1):c.697A>T (p.Met233Leu) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 29, 2022
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:
RCV002818469.2

Allele description [Variation Report for NM_016729.3(FOLR1):c.697A>T (p.Met233Leu)]

NM_016729.3(FOLR1):c.697A>T (p.Met233Leu)

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.697A>T (p.Met233Leu)
HGVS:
  • NC_000011.10:g.72196100A>T
  • NG_015863.1:g.11543A>T
  • NM_000802.3:c.697A>T
  • NM_016724.3:c.697A>T
  • NM_016725.3:c.697A>T
  • NM_016729.3:c.697A>TMANE SELECT
  • NM_016731.2:c.697A>T
  • NP_000793.1:p.Met233Leu
  • NP_057936.1:p.Met233Leu
  • NP_057937.1:p.Met233Leu
  • NP_057941.1:p.Met233Leu
  • NP_057943.1:p.Met233Leu
  • NC_000011.9:g.71907144A>T
  • NM_016725.2:c.697A>T
Protein change:
M233L
Molecular consequence:
  • NM_000802.3:c.697A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_016724.3:c.697A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_016725.3:c.697A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_016729.3:c.697A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_016731.2:c.697A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003610184Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Mar 29, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003610184.2

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

Description

The c.697A>T (p.M233L) alteration is located in exon 5 (coding exon 4) of the FOLR1 gene. This alteration results from a A to T substitution at nucleotide position 697, causing the methionine (M) at amino acid position 233 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: May 1, 2024