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NM_201253.3(CRB1):c.54_55insT (p.Leu19fs) AND Retinitis pigmentosa

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 24, 2020
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:
RCV001249876.1

Allele description [Variation Report for NM_201253.3(CRB1):c.54_55insT (p.Leu19fs)]

NM_201253.3(CRB1):c.54_55insT (p.Leu19fs)

Gene:
CRB1:crumbs cell polarity complex component 1 [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
1q31.3
Genomic location:
Preferred name:
NM_201253.3(CRB1):c.54_55insT (p.Leu19fs)
HGVS:
  • NC_000001.11:g.197268466_197268467insT
  • NG_008483.2:g.72005_72006insT
  • NM_001193640.2:c.54_55insT
  • NM_001257965.2:c.-212-33974_-212-33973insT
  • NM_001257966.2:c.54_55insT
  • NM_201253.3:c.54_55insTMANE SELECT
  • NP_001180569.1:p.Leu19fs
  • NP_001244895.1:p.Leu19fs
  • NP_957705.1:p.Leu19fs
  • NC_000001.10:g.197237596_197237597insT
  • NR_047563.2:n.215_216insT
  • NR_047564.2:n.215_216insT
Protein change:
L19fs
Links:
dbSNP: rs1654721399
NCBI 1000 Genomes Browser:
rs1654721399
Molecular consequence:
  • NM_001193640.2:c.54_55insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001257966.2:c.54_55insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_201253.3:c.54_55insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001257965.2:c.-212-33974_-212-33973insT - intron variant - [Sequence Ontology: SO:0001627]
  • NR_047563.2:n.215_216insT - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_047564.2:n.215_216insT - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Retinitis pigmentosa (RP)
Synonyms:
Tapetoretinal degeneration
Identifiers:
MONDO: MONDO:0019200; MeSH: D012174; MedGen: C0035334; Orphanet: 791; OMIM: 268000; OMIM: PS268000

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001424151INSERM U1051, Institut des Neurosciences de Montpellier
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jun 24, 2020) 		inheritedresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedresearch

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 INSERM U1051, Institut des Neurosciences de Montpellier, SCV001424151.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022