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NM_002087.4(GRN):c.900_901dup (p.Ser301fs) AND GRN-related disorder

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Feb 13, 2024
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV004548868.1

Allele description

NM_002087.4(GRN):c.900_901dup (p.Ser301fs)

Gene:
GRN:granulin precursor [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_002087.4(GRN):c.900_901dup (p.Ser301fs)
HGVS:
  • NC_000017.11:g.44351427_44351428dup
  • NG_007886.1:g.11305_11306dup
  • NM_002087.4:c.900_901dupMANE SELECT
  • NP_002078.1:p.Ser301Cysfs
  • NP_002078.1:p.Ser301fs
  • LRG_661t1:c.900_901dup
  • LRG_661:g.11305_11306dup
  • LRG_661p1:p.Ser301Cysfs
  • NC_000017.10:g.42428795_42428796dup
  • NM_002087.2:c.900_901dup
  • NM_002087.3:c.900_901dupGT
Protein change:
S301fs
Molecular consequence:
  • NM_002087.4:c.900_901dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
GRN-related disorder
Synonyms:
GRN-Related Disorders; GRN-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004710158PreventionGenetics, part of Exact Sciences
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Feb 13, 2024) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot 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 PreventionGenetics, part of Exact Sciences, SCV004710158.1

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

Description

The GRN c.900_901dupGT variant is predicted to result in a frameshift and premature protein termination (p.Ser301Cysfs*61). This variant was reported in an individual with corticobasal degeneration syndrome and in an individual with behavioural-variant frontotemporal dementia (Almeida et al. 2013. PubMed ID: 24022032). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Frameshift variants in GRN are expected to be pathogenic and protein-truncating variants upstream and downstream of this variant have been previously reported (HGMD, ClinVar). This variant is interpreted as likely pathogenic.

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

Last Updated: Sep 29, 2024