NM_014053.4(FLVCR1):c.1022A>G (p.Tyr341Cys) AND not provided

Clinical significance:Conflicting interpretations of pathogenicity, Likely pathogenic(1);Uncertain significance(1) (Last evaluated: Aug 1, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV001288601.2

Allele description [Variation Report for NM_014053.4(FLVCR1):c.1022A>G (p.Tyr341Cys)]

NM_014053.4(FLVCR1):c.1022A>G (p.Tyr341Cys)

Gene:
FLVCR1:FLVCR heme transporter 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q32.3
Genomic location:
Preferred name:
NM_014053.4(FLVCR1):c.1022A>G (p.Tyr341Cys)
HGVS:
  • NC_000001.11:g.212872816A>G
  • NG_028131.1:g.19562A>G
  • NM_014053.4:c.1022A>GMANE SELECT
  • NP_054772.1:p.Tyr341Cys
  • NC_000001.10:g.213046158A>G
  • NM_014053.2:c.1022A>G
Protein change:
Y341C
Molecular consequence:
  • NM_014053.4:c.1022A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001475852Athena Diagnostics Inccriteria provided, single submitter
Uncertain significance
(Feb 27, 2020)
unknownclinical testing

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

SCV001961162CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Likely pathogenic
(Aug 1, 2021)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

A Novel FLVCR1 Variant Implicated in Retinitis Pigmentosa.

Dockery A, Carrigan M, Wynne N, Stephenson K, Keegan D, Kenna PF, Farrar GJ.

Adv Exp Med Biol. 2019;1185:203-207. doi: 10.1007/978-3-030-27378-1_33.

PubMed [citation]
PMID:
31884612

Findings from a Genotyping Study of Over 1000 People with Inherited Retinal Disorders in Ireland.

Whelan L, Dockery A, Wynne N, Zhu J, Stephenson K, Silvestri G, Turner J, O'Byrne JJ, Carrigan M, Humphries P, Keegan D, Kenna PF, Farrar GJ.

Genes (Basel). 2020 Jan 16;11(1). doi:pii: E105. 10.3390/genes11010105.

PubMed [citation]
PMID:
31963381
PMCID:
PMC7016747
See all PubMed Citations (3)

Details of each submission

From Athena Diagnostics Inc, SCV001475852.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001961162.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 8, 2021

Support Center