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NM_014956.5(CEP164):c.381dup (p.Lys128fs) AND Retinal dystrophy

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 1, 2022
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV004817942.1

Allele description [Variation Report for NM_014956.5(CEP164):c.381dup (p.Lys128fs)]

NM_014956.5(CEP164):c.381dup (p.Lys128fs)

Gene:
CEP164:centrosomal protein 164 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
11q23.3
Genomic location:
Preferred name:
NM_014956.5(CEP164):c.381dup (p.Lys128fs)
HGVS:
  • NC_000011.10:g.117351976dup
  • NG_033032.1:g.35199dup
  • NM_001271933.2:c.381dup
  • NM_014956.5:c.381dupMANE SELECT
  • NP_001258862.1:p.Lys128fs
  • NP_055771.4:p.Lys128fs
  • NC_000011.9:g.117222685_117222686insC
  • NC_000011.9:g.117222692dup
  • NM_014956.4:c.381dup
  • NM_014956.4:c.381dupC
Protein change:
K128fs
Links:
dbSNP: rs747914869
NCBI 1000 Genomes Browser:
rs747914869
Molecular consequence:
  • NM_001271933.2:c.381dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_014956.5:c.381dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Retinal dystrophy
Synonyms:
Inherited retinal dystrophy
Identifiers:
MONDO: MONDO:0019118; MeSH: D058499; MedGen: C0854723; Human Phenotype Ontology: HP:0000556

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005068782Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg
no assertion criteria provided

(ACMG Guidelines, 2015)		Pathogenic
(Jan 1, 2022) 		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 Human Genetics, Univ. Regensburg, Univ. Regensburg, SCV005068782.1

#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: Apr 7, 2025