NM_002087.4(GRN):c.1297C>T (p.Arg433Trp) AND not provided

Clinical significance:Conflicting interpretations of pathogenicity, Benign(1);Likely benign(1);Uncertain significance(1) (Last evaluated: Jan 7, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
4 submissions [Details]
Record status:
current
Accession:
RCV000084483.7

Allele description [Variation Report for NM_002087.4(GRN):c.1297C>T (p.Arg433Trp)]

NM_002087.4(GRN):c.1297C>T (p.Arg433Trp)

Gene:
GRN:granulin precursor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_002087.4(GRN):c.1297C>T (p.Arg433Trp)
HGVS:
  • NC_000017.11:g.44352132C>T
  • NG_007886.1:g.12010C>T
  • NM_002087.3:c.1297C>T
  • NM_002087.4:c.1297C>TMANE SELECT
  • NP_002078.1:p.Arg433Trp
  • NP_002078.1:p.Arg433Trp
  • LRG_661t1:c.1297C>T
  • LRG_661:g.12010C>T
  • NC_000017.10:g.42429500C>T
  • NM_002087.2:c.1297C>T
Protein change:
R433W
Links:
dbSNP: rs63750412
NCBI 1000 Genomes Browser:
rs63750412
Molecular consequence:
  • NM_002087.3:c.1297C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002087.4:c.1297C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000116619VIB Department of Molecular Genetics, University of Antwerpno assertion providednot providednot providednot provided

SCV000280695Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinicscriteria provided, single submitter
Likely Benign
(Oct 7, 2015)
germlineclinical testing

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

SCV001151347CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Uncertain significance
(Jun 1, 2016)
germlineclinical testing

Citation Link,

SCV001940151GeneDxcriteria provided, single submitter
Benign
(Jan 7, 2019)
germlineclinical testing

Citation Link

Description

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot provided1not providedliterature only
not providedgermlinenot providednot providednot providednot providednot providednot providedclinical testing
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From VIB Department of Molecular Genetics, University of Antwerp, SCV000116619.1

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

From Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics, SCV000280695.1

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

Description

Converted during submission to Likely benign.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot provided0.003711not providednot provided

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001151347.7

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

From GeneDx, SCV001940151.1

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

Last Updated: Nov 27, 2021

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