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NM_201253.3(CRB1):c.2638A>G (p.Asn880Asp) AND Leber congenital amaurosis 8

Germline classification:
Likely pathogenic (1 submission)
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:
RCV001250644.1

Allele description [Variation Report for NM_201253.3(CRB1):c.2638A>G (p.Asn880Asp)]

NM_201253.3(CRB1):c.2638A>G (p.Asn880Asp)

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.2638A>G (p.Asn880Asp)
HGVS:
  • NC_000001.11:g.197427963A>G
  • NG_008483.2:g.231502A>G
  • NM_001193640.2:c.2302A>G
  • NM_001257965.2:c.2431A>G
  • NM_001257966.2:c.2128+6007A>G
  • NM_201253.3:c.2638A>GMANE SELECT
  • NP_001180569.1:p.Asn768Asp
  • NP_001244894.1:p.Asn811Asp
  • NP_957705.1:p.Asn880Asp
  • NC_000001.10:g.197397093A>G
  • NM_201253.2:c.2638A>G
  • NR_047563.2:n.2591A>G
  • NR_047564.2:n.2799A>G
Protein change:
N768D
Links:
dbSNP: rs1664683759
NCBI 1000 Genomes Browser:
rs1664683759
Molecular consequence:
  • NM_001257966.2:c.2128+6007A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001193640.2:c.2302A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001257965.2:c.2431A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_201253.3:c.2638A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_047563.2:n.2591A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_047564.2:n.2799A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001425515Laboratory of Genetics in Ophthalmology, Institut Imagine
no assertion criteria provided
Likely pathogenicinheritedresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyes1not providednot providednot providednot providedresearch

Citations

PubMed

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.

Carss KJ, Arno G, Erwood M, Stephens J, Sanchis-Juan A, Hull S, Megy K, Grozeva D, Dewhurst E, Malka S, Plagnol V, Penkett C, Stirrups K, Rizzo R, Wright G, Josifova D, Bitner-Glindzicz M, Scott RH, Clement E, Allen L, Armstrong R, Brady AF, et al.

Am J Hum Genet. 2017 Jan 5;100(1):75-90. doi: 10.1016/j.ajhg.2016.12.003. Epub 2016 Dec 29.

PubMed [citation]
PMID:
28041643
PMCID:
PMC5223092

Details of each submission

From Laboratory of Genetics in Ophthalmology, Institut Imagine, SCV001425515.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Apr 23, 2022