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

Clinical significance:Benign (Last evaluated: Jul 13, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000716742.1

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_002087.4: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
  • NM_002087.3:c.1297C>T
Protein change:
R433W
Links:
dbSNP: rs63750412
NCBI 1000 Genomes Browser:
rs63750412
Molecular consequence:
  • NM_002087.4:c.1297C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Seizures
Identifiers:
MedGen: C0036572; Human Phenotype Ontology: HP:0001250

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000847585Ambry Geneticscriteria provided, single submitter
Benign
(Jul 13, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000847585.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

Other strong data;Other strong data supporting benign classification

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Dec 4, 2021

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