NM_014053.4(FLVCR1):c.1488dup (p.Leu497fs) AND not provided

Clinical significance:Pathogenic (Last evaluated: Aug 5, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001384165.1

Allele description [Variation Report for NM_014053.4(FLVCR1):c.1488dup (p.Leu497fs)]

NM_014053.4(FLVCR1):c.1488dup (p.Leu497fs)

Gene:
FLVCR1:FLVCR heme transporter 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
1q32.3
Genomic location:
Preferred name:
NM_014053.4(FLVCR1):c.1488dup (p.Leu497fs)
HGVS:
  • NC_000001.11:g.212889220dup
  • NG_028131.1:g.35966dup
  • NM_014053.4:c.1488dupMANE SELECT
  • NP_054772.1:p.Leu497fs
  • NC_000001.10:g.213062557_213062558insT
  • NC_000001.10:g.213062562dup
Protein change:
L497fs
Links:
Molecular consequence:
  • NM_014053.4:c.1488dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001583550Invitaecriteria provided, single submitter
Pathogenic
(Aug 5, 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, SCV001583550.1

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

Description

This sequence change creates a premature translational stop signal (p.Leu497Serfs*18) in the FLVCR1 gene. It is expected to result 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. Loss-of-function variants in FLVCR1 are known to be pathogenic (PMID: 23591405, 27923065). For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: May 14, 2021

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