NM_014053.4(FLVCR1):c.1093-12_1095del AND not provided

Clinical significance:Likely pathogenic (Last evaluated: Jan 21, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001378428.1

Allele description [Variation Report for NM_014053.4(FLVCR1):c.1093-12_1095del]

NM_014053.4(FLVCR1):c.1093-12_1095del

Gene:
FLVCR1:FLVCR heme transporter 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1q32.3
Genomic location:
Preferred name:
NM_014053.4(FLVCR1):c.1093-12_1095del
HGVS:
  • NC_000001.11:g.212885281_212885295del
  • NG_028131.1:g.32027_32041del
  • NM_014053.4:c.1093-12_1095delMANE SELECT
  • NC_000001.10:g.213058622_213058636del
  • NC_000001.10:g.213058623_213058637del
Links:
Molecular consequence:
  • NM_014053.4:c.1093-12_1095del - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001575995Invitaecriteria provided, single submitter
Likely pathogenic
(Jan 21, 2020)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.

Glöckle N, Kohl S, Mohr J, Scheurenbrand T, Sprecher A, Weisschuh N, Bernd A, Rudolph G, Schubach M, Poloschek C, Zrenner E, Biskup S, Berger W, Wissinger B, Neidhardt J.

Eur J Hum Genet. 2014 Jan;22(1):99-104. doi: 10.1038/ejhg.2013.72. Epub 2013 Apr 17.

PubMed [citation]
PMID:
23591405
PMCID:
PMC3865404

Mutations in the Heme Exporter FLVCR1 Cause Sensory Neurodegeneration with Loss of Pain Perception.

Chiabrando D, Castori M, di Rocco M, Ungelenk M, Gießelmann S, Di Capua M, Madeo A, Grammatico P, Bartsch S, Hübner CA, Altruda F, Silengo L, Tolosano E, Kurth I.

PLoS Genet. 2016 Dec;12(12):e1006461. doi: 10.1371/journal.pgen.1006461.

PubMed [citation]
PMID:
27923065
PMCID:
PMC5140052
See all PubMed Citations (3)

Details of each submission

From Invitae, SCV001575995.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This variant results in the deletion of part of exon 5 (c.1093-12_1095del) of the FLVCR1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with FLVCR1-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. Loss-of-function variants in FLVCR1 are known to be pathogenic (PMID: 23591405, 27923065). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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

Last Updated: May 14, 2021

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