NM_003900.5(SQSTM1):c.984G>A (p.Ser328=) AND not specified

Germline classification:: Benign (2 submissions)
Last evaluated:: Jan 26, 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:: RCV001579386.3

Allele description [Variation Report for NM_003900.5(SQSTM1):c.984G>A (p.Ser328=)]

NM_003900.5(SQSTM1):c.984G>A (p.Ser328=)

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.984G>A (p.Ser328=)

HGVS:

NC_000005.10:g.179833601G>A
NG_011342.1:g.32214G>A
NM_001142298.2:c.732G>A
NM_001142299.2:c.732G>A
NM_003900.5:c.984G>AMANE SELECT
NP_001135770.1:p.Ser244=
NP_001135771.1:p.Ser244=
NP_003891.1:p.Ser328=
NC_000005.9:g.179260601G>A
NM_003900.4:c.984G>A

Links:

dbSNP: rs146164139

NCBI 1000 Genomes Browser:

rs146164139

Molecular consequence:

NM_001142298.2:c.732G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001142299.2:c.732G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_003900.5:c.984G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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phosphoglycerate mutase 1 (brain), isoform CRA_d [Homo sapiens]
phosphoglycerate mutase 1 (brain), isoform CRA_d [Homo sapiens]
gi|119570326|gb|EAW49941.1||gnl|WGS |hCP1897299

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001807041	Genome Diagnostics Laboratory, Amsterdam University Medical Center - VKGL Data-share Consensus	no assertion criteria provided	Benign	germline	clinical testing
SCV001879902	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics criteria)	Benign (Jan 26, 2021)	unknown	clinical testing	PubMed (4) [See all records that cite these PMIDs] 25796131, 21073987, 25433461, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001807041

Genome Diagnostics Laboratory, Amsterdam University Medical Center - VKGL Data-share Consensus

no assertion criteria provided

Benign

germline

clinical testing

SCV001879902

Athena Diagnostics

criteria provided, single submitter

(Athena Diagnostics criteria)

Benign
(Jan 26, 2021)

unknown

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

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

Novel SQSTM1 mutations in patients with Paget's disease of bone in an unrelated multiethnic American population.

Michou L, Morissette J, Gagnon ER, Marquis A, Dellabadia M, Brown JP, Siris ES.

Bone. 2011 Mar 1;48(3):456-60. doi: 10.1016/j.bone.2010.11.004. Epub 2010 Nov 10.

PubMed [citation]

PMID:: 21073987

See all PubMed Citations (4)

Details of each submission

From Genome Diagnostics Laboratory, Amsterdam University Medical Center - VKGL Data-share Consensus, SCV001807041.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

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

From Athena Diagnostics, SCV001879902.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

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

Last Updated: Oct 20, 2024

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