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NC_000011.9:g.(?_71146401)_(71907241_?)dup AND Cerebral folate transport deficiency

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 19, 2019
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:
RCV001031374.4

Allele description

NC_000011.9:g.(?_71146401)_(71907241_?)dup

Genes:
  • DHCR7:7-dehydrocholesterol reductase [Gene - OMIM - HGNC]
  • NADSYN1:NAD synthetase 1 [Gene - OMIM - HGNC]
  • ANAPC15:anaphase promoting complex subunit 15 [Gene - OMIM - HGNC]
  • DEFB108B:defensin beta 108B [Gene - HGNC]
  • FAM86C1P:family with sequence similarity 86 member C1, pseudogene [Gene - OMIM - HGNC]
  • FOLR1:folate receptor alpha [Gene - OMIM - HGNC]
  • FOLR3:folate receptor gamma [Gene - OMIM - HGNC]
  • IL18BP:interleukin 18 binding protein [Gene - OMIM - HGNC]
  • KRTAP5-10:keratin associated protein 5-10 [Gene - HGNC]
  • KRTAP5-11:keratin associated protein 5-11 [Gene - HGNC]
  • KRTAP5-7:keratin associated protein 5-7 [Gene - HGNC]
  • KRTAP5-8:keratin associated protein 5-8 [Gene - HGNC]
  • KRTAP5-9:keratin associated protein 5-9 [Gene - OMIM - HGNC]
  • LAMTOR1:late endosomal/lysosomal adaptor, MAPK and MTOR activator 1 [Gene - OMIM - HGNC]
  • LRTOMT:leucine rich transmembrane and O-methyltransferase domain containing [Gene - OMIM - HGNC]
  • NUMA1:nuclear mitotic apparatus protein 1 [Gene - OMIM - HGNC]
  • RNF121:ring finger protein 121 [Gene - HGNC]
  • ZNF705E:zinc finger protein 705E [Gene - HGNC]
Variant type:
Duplication
Cytogenetic location:
11q13.4
Genomic location:
Chr11: 71146401 - 71907241 (on Assembly GRCh37)
Preferred name:
NC_000011.9:g.(?_71146401)_(71907241_?)dup
HGVS:
NC_000011.9:g.(?_71146401)_(71907241_?)dup

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
SCV001194680Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Jan 19, 2019) 		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 Invitae, SCV001194680.3

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

Description

This variant results in a copy number gain of the genomic region encompassing the full coding sequence of the FOLR1 gene. The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this event is unknown, it may be in tandem or it may be located elsewhere in the genome. This variant has not been reported in the literature in individuals with FOLR1-related conditions. 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.

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

Last Updated: Jul 29, 2023