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NM_016729.3(FOLR1):c.647_648inv (p.Pro216Leu) AND Cerebral folate transport deficiency

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 7, 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:
RCV001346644.7

Allele description [Variation Report for NM_016729.3(FOLR1):c.647_648inv (p.Pro216Leu)]

NM_016729.3(FOLR1):c.647_648inv (p.Pro216Leu)

Gene:
FOLR1:folate receptor alpha [Gene - OMIM - HGNC]
Variant type:
Inversion
Cytogenetic location:
11q13.4
Genomic location:
Preferred name:
NM_016729.3(FOLR1):c.647_648inv (p.Pro216Leu)
HGVS:
  • NC_000011.10:g.72196050_72196051inv
  • NG_015863.1:g.11493_11494inv
  • NM_000802.3:c.647_648inv
  • NM_016724.3:c.647_648inv
  • NM_016725.3:c.647_648inv
  • NM_016729.3:c.647_648invMANE SELECT
  • NP_000793.1:p.Pro216Leu
  • NP_057936.1:p.Pro216Leu
  • NP_057937.1:p.Pro216Leu
  • NP_057941.1:p.Pro216Leu
  • NC_000011.9:g.71907094_71907095delinsTG
  • NC_000011.9:g.71907094_71907095inv
Protein change:
P216L
Links:
Molecular consequence:
  • NM_000802.3:c.647_648inv - missense variant - [Sequence Ontology: SO:0001583]
  • NM_016724.3:c.647_648inv - missense variant - [Sequence Ontology: SO:0001583]
  • NM_016725.3:c.647_648inv - missense variant - [Sequence Ontology: SO:0001583]
  • NM_016729.3:c.647_648inv - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cerebral folate transport deficiency
Synonyms:
Neurodegeneration due to cerebral folate transport deficiency; Cerebral folate deficiency syndrome; FOLATE RECEPTOR DEFICIENCY; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0013110; MedGen: C2751584; Orphanet: 217382; OMIM: 613068

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001540866Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Jul 7, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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, SCV001540866.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1042653). This variant has not been reported in the literature in individuals affected with FOLR1-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 216 of the FOLR1 protein (p.Pro216Leu).

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

Last Updated: Sep 29, 2024