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NM_000261.2(MYOC):c.1102C>T (p.Gln368Ter) AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
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:
RCV000735309.4

Allele description [Variation Report for NM_000261.2(MYOC):c.1102C>T (p.Gln368Ter)]

NM_000261.2(MYOC):c.1102C>T (p.Gln368Ter)

Gene:
MYOC:myocilin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q24.3
Genomic location:
Preferred name:
NM_000261.2(MYOC):c.1102C>T (p.Gln368Ter)
Other names:
NM_000261.2(MYOC):c.1102C>T; p.Gln368Ter
HGVS:
  • NC_000001.11:g.171636338G>A
  • NG_008859.1:g.21296C>T
  • NM_000261.2:c.1102C>TMANE SELECT
  • NP_000252.1:p.Gln368Ter
  • NC_000001.10:g.171605478G>A
  • NC_000001.10:g.171605478G>A
  • NM_000261.1:c.1102C>T
Protein change:
Q368*; GLN368TER
Links:
OMIM: 601652.0003; dbSNP: rs74315329
NCBI 1000 Genomes Browser:
rs74315329
Molecular consequence:
  • NM_000261.2:c.1102C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Severe combined immunodeficiency disease (SCID)
Synonyms:
Severe combined immunodeficiency; Bubble boy disease; Severe Combined Immune Deficiency
Identifiers:
MONDO: MONDO:0015974; MeSH: D016511; MedGen: C0085110; Human Phenotype Ontology: HP:0004430
Name:
Immunodeficiency
Identifiers:
MONDO: MONDO:0021094; MedGen: C0021051; OMIM: PS300755; Human Phenotype Ontology: HP:0002721
Name:
Lymphopenia
Identifiers:
MONDO: MONDO:0003783; MedGen: C0024312; Human Phenotype Ontology: HP:0001888
Name:
Abnormal cellular immune system morphology
Synonyms:
Abnormality of cellular immune system
Identifiers:
MedGen: C4023612; Human Phenotype Ontology: HP:0010987
Name:
Abnormality of T cell physiology
Identifiers:
MedGen: C4023166; Human Phenotype Ontology: HP:0011840
Name:
Combined immunodeficiency
Synonyms:
Congenital combined immunodeficiency; Combined T and B cell immunodeficiency
Identifiers:
MONDO: MONDO:0015131; MedGen: C2711630; Human Phenotype Ontology: HP:0005387

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000854462Center for Personalized Medicine, Children's Hospital Los Angeles
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenicgermlineclinical 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 Center for Personalized Medicine, Children's Hospital Los Angeles, SCV000854462.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing
(GTR000552474.2)		 PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot provideddiscovery
(GTR000552474.2)		not providednot providednot providednot provided

Last Updated: Oct 20, 2024