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NM_001330691.3(CEP78):c.1369G>T (p.Glu457Ter) AND Cone-rod dystrophy and hearing loss 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 17, 2023
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:
RCV003222499.2

Allele description [Variation Report for NM_001330691.3(CEP78):c.1369G>T (p.Glu457Ter)]

NM_001330691.3(CEP78):c.1369G>T (p.Glu457Ter)

Gene:
CEP78:centrosomal protein 78 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q21.2
Genomic location:
Preferred name:
NM_001330691.3(CEP78):c.1369G>T (p.Glu457Ter)
HGVS:
  • NC_000009.12:g.78254953G>T
  • NG_053171.1:g.23892G>T
  • NM_001098802.3:c.1372G>T
  • NM_001330691.3:c.1369G>TMANE SELECT
  • NM_001330693.3:c.1369G>T
  • NM_001330694.2:c.1369G>T
  • NM_001349838.2:c.1369G>T
  • NM_001349839.2:c.1372G>T
  • NM_001349840.2:c.1372G>T
  • NM_032171.3:c.1372G>T
  • NP_001092272.1:p.Glu458Ter
  • NP_001317620.1:p.Glu457Ter
  • NP_001317622.1:p.Glu457Ter
  • NP_001317623.1:p.Glu457Ter
  • NP_001336767.1:p.Glu457Ter
  • NP_001336768.1:p.Glu458Ter
  • NP_001336769.1:p.Glu458Ter
  • NP_115547.1:p.Glu458Ter
  • NC_000009.11:g.80869869G>T
Protein change:
E457*
Molecular consequence:
  • NM_001098802.3:c.1372G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001330691.3:c.1369G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001330693.3:c.1369G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001330694.2:c.1369G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001349838.2:c.1369G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001349839.2:c.1372G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001349840.2:c.1372G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_032171.3:c.1372G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Cone-rod dystrophy and hearing loss 1 (CRDHL1)
Identifiers:
MONDO: MONDO:0020778; MedGen: C5193018; OMIM: 617236

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003915844Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Apr 17, 2023) 		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 Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, SCV003915844.1

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

Last Updated: Dec 7, 2024