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NM_003900.5(SQSTM1):c.1005T>A (p.Asp335Glu) AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 28, 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:
RCV002252827.2

Allele description [Variation Report for NM_003900.5(SQSTM1):c.1005T>A (p.Asp335Glu)]

NM_003900.5(SQSTM1):c.1005T>A (p.Asp335Glu)

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.1005T>A (p.Asp335Glu)
HGVS:
  • NC_000005.10:g.179833622T>A
  • NG_011342.1:g.32235T>A
  • NM_001142298.2:c.753T>A
  • NM_001142299.2:c.753T>A
  • NM_003900.5:c.1005T>AMANE SELECT
  • NP_001135770.1:p.Asp251Glu
  • NP_001135771.1:p.Asp251Glu
  • NP_003891.1:p.Asp335Glu
  • NC_000005.9:g.179260622T>A
Protein change:
D251E
Links:
dbSNP: rs1274935409
NCBI 1000 Genomes Browser:
rs1274935409
Molecular consequence:
  • NM_001142298.2:c.753T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001142299.2:c.753T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003900.5:c.1005T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
See cases [See the Variation display for details]
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002522761Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jan 28, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot 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 Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein, SCV002522761.1

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

Description

ACMG classification criteria: PM2

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

Last Updated: Dec 24, 2023