NM_003900.5(SQSTM1):c.1108T>C (p.Ser370Pro) AND Paget disease of bone 3

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 28, 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:: RCV001157196.4

Allele description [Variation Report for NM_003900.5(SQSTM1):c.1108T>C (p.Ser370Pro)]

NM_003900.5(SQSTM1):c.1108T>C (p.Ser370Pro)

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.1108T>C (p.Ser370Pro)

HGVS:

NC_000005.10:g.179833725T>C
NG_011342.1:g.32338T>C
NM_001142298.2:c.856T>C
NM_001142299.2:c.856T>C
NM_003900.5:c.1108T>CMANE SELECT
NP_001135770.1:p.Ser286Pro
NP_001135771.1:p.Ser286Pro
NP_003891.1:p.Ser370Pro
NC_000005.9:g.179260725T>C
NM_003900.4:c.1108T>C

Protein change:

S286P

Links:

dbSNP: rs143956614

NCBI 1000 Genomes Browser:

rs143956614

Molecular consequence:

NM_001142298.2:c.856T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001142299.2:c.856T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_003900.5:c.1108T>C - 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

Recent activity

Clear Turn Off Turn On

Taxonomy Links for GEO Profiles (Select 77143090) (1)
Taxonomy

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001318746	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019)	Uncertain significance (Apr 28, 2017)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 22084127, 23820649 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001318746

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)

Uncertain significance
(Apr 28, 2017)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis.

Fecto F, Yan J, Vemula SP, Liu E, Yang Y, Chen W, Zheng JG, Shi Y, Siddique N, Arrat H, Donkervoort S, Ajroud-Driss S, Sufit RL, Heller SL, Deng HX, Siddique T.

Arch Neurol. 2011 Nov;68(11):1440-6. doi: 10.1001/archneurol.2011.250.

PubMed [citation]

PMID:: 22084127

Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.

Cooper DN, Krawczak M, Polychronakos C, Tyler-Smith C, Kehrer-Sawatzki H.

Hum Genet. 2013 Oct;132(10):1077-130. doi: 10.1007/s00439-013-1331-2. Epub 2013 Jul 3. Review.

PubMed [citation]

PMID:: 23820649
PMCID:: PMC3778950

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001318746.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

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. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 26, 2024

ClinVar

Relating variation to medicine