NM_002087.4(GRN):c.1297C>T (p.Arg433Trp) AND Grn-related frontotemporal lobar degeneration with Tdp43 inclusions

Clinical significance:Benign/Likely benign (Last evaluated: Jun 28, 2017)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000576498.2

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]

Condition(s)

Name:
Grn-related frontotemporal lobar degeneration with Tdp43 inclusions (HDDD)
Synonyms:
FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS; FTLD-TDP, GRN-RELATED; Frontotemporal dementia, ubiquitin-positive; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0011842; MedGen: C1843792; Orphanet: 100070; Orphanet: 282; OMIM: 607485

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000403349Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Likely benign
(Apr 27, 2017)
germlineclinical testing

PubMed (10)
[See all records that cite these PMIDs]

Citation Link,

SCV000677376Athena Diagnostics Inccriteria provided, single submitter
Benign
(Jun 28, 2017)
germlineclinical testing

PubMed (9)
[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

Granulin mutations associated with frontotemporal lobar degeneration and related disorders: an update.

Gijselinck I, Van Broeckhoven C, Cruts M.

Hum Mutat. 2008 Dec;29(12):1373-86. doi: 10.1002/humu.20785.

PubMed [citation]
PMID:
18543312

The PSEN1, p.E318G variant increases the risk of Alzheimer's disease in APOE-ε4 carriers.

Benitez BA, Karch CM, Cai Y, Jin SC, Cooper B, Carrell D, Bertelsen S, Chibnik L, Schneider JA, Bennett DA; Alzheimer's Disease Neuroimaging Initiative.; Genetic and Environmental Risk for Alzheimer's Disease Consortium GERAD., Fagan AM, Holtzman D, Morris JC, Goate AM, Cruchaga C.

PLoS Genet. 2013;9(8):e1003685. doi: 10.1371/journal.pgen.1003685. Epub 2013 Aug 22.

PubMed [citation]
PMID:
23990795
PMCID:
PMC3750021
See all PubMed Citations (11)

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000403349.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (10)

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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

From Athena Diagnostics Inc, SCV000677376.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (9)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 6, 2021

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