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NM_003900.5(SQSTM1):c.350C>T (p.Ala117Val) AND Paget disease of bone 3

Germline classification:
Likely benign (1 submission)
Last evaluated:
Apr 27, 2017
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:
RCV001157082.4

Allele description [Variation Report for NM_003900.5(SQSTM1):c.350C>T (p.Ala117Val)]

NM_003900.5(SQSTM1):c.350C>T (p.Ala117Val)

Gene:
SQSTM1:sequestosome 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q35.3
Genomic location:
Preferred name:
NM_003900.5(SQSTM1):c.350C>T (p.Ala117Val)
HGVS:
  • NC_000005.10:g.179823906C>T
  • NG_011342.1:g.22519C>T
  • NM_001142298.2:c.98C>T
  • NM_001142299.2:c.98C>T
  • NM_003900.5:c.350C>TMANE SELECT
  • NP_001135770.1:p.Ala33Val
  • NP_001135771.1:p.Ala33Val
  • NP_003891.1:p.Ala117Val
  • NC_000005.9:g.179250906C>T
Protein change:
A117V
Links:
dbSNP: rs147810437
NCBI 1000 Genomes Browser:
rs147810437
Molecular consequence:
  • NM_001142298.2:c.98C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001142299.2:c.98C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003900.5:c.350C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Paget disease of bone 3
Synonyms:
Paget disease of bone, familial
Identifiers:
MONDO: MONDO:0008176; MedGen: C4085252; OMIM: 167250

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001318628Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)		Likely benign
(Apr 27, 2017) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

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

Citations

PubMed

Recurrent mutation of the gene encoding sequestosome 1 (SQSTM1/p62) in Paget disease of bone.

Laurin N, Brown JP, Morissette J, Raymond V.

Am J Hum Genet. 2002 Jun;70(6):1582-8. Epub 2002 Apr 30.

PubMed [citation]
PMID:
11992264
PMCID:
PMC379146

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001318628.1

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

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

Last Updated: Oct 20, 2024