NM_002087.4(GRN):c.998del (p.Gly333fs) AND not provided

Germline classification:
not provided (1 submission)
Review status:
no classification provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000084470.1

Allele description [Variation Report for NM_002087.4(GRN):c.998del (p.Gly333fs)]

NM_002087.4(GRN):c.998del (p.Gly333fs)

Gene:
GRN:granulin precursor [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_002087.4(GRN):c.998del (p.Gly333fs)
HGVS:
  • NC_000017.11:g.44351614del
  • NG_007886.1:g.11492del
  • NM_002087.4:c.998delMANE SELECT
  • NP_002078.1:p.Gly333fs
  • LRG_661:g.11492del
  • NC_000017.10:g.42428982del
  • NC_000017.10:g.42428982delG
Nucleotide change:
1-BP DEL, 998G
Protein change:
G333fs
Links:
OMIM: 138945.0010; dbSNP: rs63750873
NCBI 1000 Genomes Browser:
rs63750873
Molecular consequence:
  • NM_002087.4:c.998del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000116606VIB Department of Molecular Genetics, University of Antwerp
no classification provided
not providednot providednot provided

Description

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot provided1not providedliterature only

Details of each submission

From VIB Department of Molecular Genetics, University of Antwerp, SCV000116606.1

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

Last Updated: Sep 16, 2024