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NM_003900.5(SQSTM1):c.998GAG[1] (p.Gly334del) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 16, 2021
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:
RCV001664855.2

Allele description [Variation Report for NM_003900.5(SQSTM1):c.998GAG[1] (p.Gly334del)]

NM_003900.5(SQSTM1):c.998GAG[1] (p.Gly334del)

Gene:
SQSTM1:sequestosome 1 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
5q35.3
Genomic location:
Preferred name:
NM_003900.5(SQSTM1):c.998GAG[1] (p.Gly334del)
HGVS:
  • NC_000005.10:g.179833615GAG[1]
  • NG_011342.1:g.32228GAG[1]
  • NM_001142298.2:c.746GAG[1]
  • NM_001142299.2:c.746GAG[1]
  • NM_003900.5:c.998GAG[1]MANE SELECT
  • NP_001135770.1:p.Gly250del
  • NP_001135771.1:p.Gly250del
  • NP_003891.1:p.Gly334del
  • NC_000005.9:g.179260613_179260615del
  • NC_000005.9:g.179260615GAG[1]
  • NM_003900.4:c.1001_1003del
  • NM_003900.4:c.1001_1003delGAG
Protein change:
G250del
Links:
dbSNP: rs778047147
NCBI 1000 Genomes Browser:
rs778047147
Molecular consequence:
  • NM_001142298.2:c.746GAG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001142299.2:c.746GAG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_003900.5:c.998GAG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001879898Athena Diagnostics
criteria provided, single submitter

(Athena Diagnostics criteria)		Uncertain significance
(Mar 16, 2021) 		unknownclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration.

van der Zee J, Van Langenhove T, Kovacs GG, Dillen L, Deschamps W, Engelborghs S, Matěj R, Vandenbulcke M, Sieben A, Dermaut B, Smets K, Van Damme P, Merlin C, Laureys A, Van Den Broeck M, Mattheijssens M, Peeters K, Benussi L, Binetti G, Ghidoni R, Borroni B, Padovani A, et al.

Acta Neuropathol. 2014 Sep;128(3):397-410. doi: 10.1007/s00401-014-1298-7. Epub 2014 Jun 5.

PubMed [citation]
PMID:
24899140
PMCID:
PMC4131163

Genetic variability in SQSTM1 and risk of early-onset Alzheimer dementia: a European early-onset dementia consortium study.

Cuyvers E, van der Zee J, Bettens K, Engelborghs S, Vandenbulcke M, Robberecht C, Dillen L, Merlin C, Geerts N, Graff C, Thonberg H, Chiang HH, Pastor P, Ortega-Cubero S, Pastor MA, Diehl-Schmid J, Alexopoulos P, Benussi L, Ghidoni R, Binetti G, Nacmias B, Sorbi S, et al.

Neurobiol Aging. 2015 May;36(5):2005.e15-22. doi: 10.1016/j.neurobiolaging.2015.02.014. Epub 2015 Feb 19.

PubMed [citation]
PMID:
25796131
See all PubMed Citations (3)

Details of each submission

From Athena Diagnostics, SCV001879898.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 13, 2024