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NM_016042.3(EXOSC3):c.395A>C (p.Asp132Ala) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 18, 2014
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:
RCV000224817.1

Allele description

NM_016042.3(EXOSC3):c.395A>C (p.Asp132Ala)

Gene:
EXOSC3:exosome component 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9p13.2
Genomic location:
Preferred name:
NM_016042.3(EXOSC3):c.395A>C (p.Asp132Ala)
HGVS:
  • NC_000009.12:g.37783993T>G
  • NG_032780.1:g.6100A>C
  • NM_016042.3:c.395A>C
  • NP_057126.2:p.Asp132Ala
  • NC_000009.11:g.37783990T>G
  • NM_016042.2:c.395A>C
  • Q9NQT5:p.Asp132Ala
Protein change:
D132A; ASP132ALA
Links:
UniProtKB: Q9NQT5#VAR_068506; OMIM: 606489.0001; dbSNP: rs141138948
NCBI 1000 Genomes Browser:
rs141138948
Allele Frequency:
0.0008, GO-ESP
Molecular consequence:
  • NM_016042.3:c.395A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN221809

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000281509Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jun 18, 2014) 		de novoclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novonot providednot 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 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics, SCV000281509.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novonot providednot providednot providednot providednot provided0.000928not providednot provided

Last Updated: Oct 3, 2016