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NM_201253.3(CRB1):c.2688T>A (p.Cys896Ter) AND Leber congenital amaurosis 8

Germline classification:
Pathogenic (3 submissions)
Last evaluated:
Oct 25, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV001250608.3

Allele description

NM_201253.3(CRB1):c.2688T>A (p.Cys896Ter)

Gene:
CRB1:crumbs cell polarity complex component 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q31.3
Genomic location:
Preferred name:
NM_201253.3(CRB1):c.2688T>A (p.Cys896Ter)
HGVS:
  • NC_000001.11:g.197429460T>A
  • NG_008483.2:g.232999T>A
  • NM_001193640.2:c.2352T>A
  • NM_001257965.2:c.2616T>A
  • NM_001257966.2:c.2129-6140T>A
  • NM_201253.3:c.2688T>AMANE SELECT
  • NP_001180569.1:p.Cys784Ter
  • NP_001244894.1:p.Cys872Ter
  • NP_957705.1:p.Cys896Ter
  • NC_000001.10:g.197398590T>A
  • NM_201253.2:c.2688T>A
  • NR_047563.2:n.2641T>A
  • NR_047564.2:n.2849T>A
Protein change:
C784*
Links:
dbSNP: rs62636273
NCBI 1000 Genomes Browser:
rs62636273
Molecular consequence:
  • NM_001257966.2:c.2129-6140T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NR_047563.2:n.2641T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_047564.2:n.2849T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001193640.2:c.2352T>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001257965.2:c.2616T>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_201253.3:c.2688T>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Leber congenital amaurosis 8 (LCA8)
Identifiers:
MONDO: MONDO:0013453; MedGen: C3151202; Orphanet: 65; OMIM: 613835

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001425476Laboratory of Genetics in Ophthalmology, Institut Imagine
no assertion criteria provided
Pathogenicinheritedresearch

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

SCV004180069Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)
Pathogenic
(Apr 11, 2023)
germlineclinical testing

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

SCV004211105Baylor Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)
Pathogenic
(Oct 25, 2023)
unknownclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlinenonot providednot providednot providednot providednot providedclinical testing
not providedinheritedyes3not providednot providednot providednot providedresearch

Citations

PubMed

Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis.

Hanein S, Perrault I, Gerber S, Tanguy G, Barbet F, Ducroq D, Calvas P, Dollfus H, Hamel C, Lopponen T, Munier F, Santos L, Shalev S, Zafeiriou D, Dufier JL, Munnich A, Rozet JM, Kaplan J.

Hum Mutat. 2004 Apr;23(4):306-17.

PubMed [citation]
PMID:
15024725

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 Laboratory of Genetics in Ophthalmology, Institut Imagine, SCV001425476.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided3not providednot providednot provided

From Genome-Nilou Lab, SCV004180069.1

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

From Baylor Genetics, SCV004211105.1

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

Last Updated: May 7, 2024