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NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 9, 2019
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:
RCV000853550.9

Allele description [Variation Report for NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala)]

NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala)

Gene:
EXOSC3:exosome component 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9p13.2
Genomic location:
Preferred name:
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala)
HGVS:
  • NC_000009.12:g.37784953C>G
  • NG_032780.1:g.5140G>C
  • NM_001002269.2:c.92G>C
  • NM_016042.4:c.92G>CMANE SELECT
  • NP_001002269.1:p.Gly31Ala
  • NP_057126.2:p.Gly31Ala
  • NP_057126.2:p.Gly31Ala
  • NC_000009.11:g.37784950C>G
  • NM_016042.2:c.92G>C
  • NM_016042.3:c.92G>C
  • Q9NQT5:p.Gly31Ala
Protein change:
G31A; GLY31ALA
Links:
UniProtKB: Q9NQT5#VAR_068505; OMIM: 606489.0004; dbSNP: rs387907196
NCBI 1000 Genomes Browser:
rs387907196
Molecular consequence:
  • NM_001002269.2:c.92G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_016042.4:c.92G>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Fetal akinesia deformation sequence 1 (FADS1)
Synonyms:
Pena Shokeir syndrome, type 1; Lethal Pena-Shokeir 1 syndrome; Pena-Shokeir syndrome type I; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0100101; MedGen: C1276035; Orphanet: 994; OMIM: 208150; Human Phenotype Ontology: HP:0001989
Name:
Lissencephaly
Synonyms:
Lissencephaly spectrum disorders
Identifiers:
MONDO: MONDO:0018838; MedGen: C0266463; OMIM: PS607432; Human Phenotype Ontology: HP:0001339
Name:
Microcephaly
Synonyms:
Microcephaly (disease)
Identifiers:
MONDO: MONDO:0001149; MedGen: C4551563; Human Phenotype Ontology: HP:0000252
Name:
Abnormal cerebellum morphology
Synonyms:
Abnormality of the cerebellum; Cerebellar abnormalities; Cerebellar abnormality; See all synonyms [MedGen]
Identifiers:
MedGen: C1866129; Human Phenotype Ontology: HP:0001317
Name:
Paucity of anterior horn motor neurons
Identifiers:
MedGen: C2673351; Human Phenotype Ontology: HP:0007277
Name:
Severe intrauterine growth retardation
Identifiers:
MedGen: C1855843; Human Phenotype Ontology: HP:0008846
Name:
Hypoplasia of the pons
Identifiers:
MedGen: C1848529; Human Phenotype Ontology: HP:0012110

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000995079Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine
criteria provided, single submitter

(ACMG Guidelines, 2015)
Pathogenic
(Oct 9, 2019)
inheritedclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyes1not 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 Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine, SCV000995079.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided1not providednot providednot provided

Last Updated: May 26, 2024