NM_014053.4(FLVCR1):c.1572dup (p.Thr525fs) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Mar 3, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001204894.2

Allele description [Variation Report for NM_014053.4(FLVCR1):c.1572dup (p.Thr525fs)]

NM_014053.4(FLVCR1):c.1572dup (p.Thr525fs)

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.1572dup (p.Thr525fs)
HGVS:
  • NC_000001.11:g.212895032dup
  • NG_028131.1:g.41778dup
  • NM_014053.4:c.1572dupMANE SELECT
  • NP_054772.1:p.Thr525fs
  • NC_000001.10:g.213068372_213068373insT
  • NC_000001.10:g.213068374dup
  • NM_014053.3:c.1572dup
Protein change:
T525fs
Links:
Molecular consequence:
  • NM_014053.4:c.1572dup - 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
SCV001376123Invitaecriteria provided, single submitter
Uncertain significance
(Mar 3, 2020)
germlineclinical testing

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

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):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV001376123.2

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

Description

This sequence change results in a premature translational stop signal in the FLVCR1 gene (p.Thr525Tyrfs*4). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 31 amino acids of the FLVCR1 protein. 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. 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: Mar 14, 2021

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