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NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del) AND Leber congenital amaurosis 1

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 28, 2019
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:
RCV000986483.2

Allele description [Variation Report for NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del)]

NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del)

Gene:
CRB1:crumbs cell polarity complex component 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1q31.3
Genomic location:
Preferred name:
NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del)
Other names:
NC_000001.10:g.197297979_197297987del; NP_957705.1:p.(Ile167_Gly169del)
HGVS:
  • NC_000001.11:g.197328849_197328857del
  • NG_008483.2:g.132388_132396del
  • NM_001193640.2:c.498_506del
  • NM_001257965.2:c.291_299del
  • NM_001257966.2:c.498_506del
  • NM_201253.3:c.498_506delMANE SELECT
  • NP_001180569.1:p.Ile167_Gly169del
  • NP_001244894.1:p.Ile98_Gly100del
  • NP_001244895.1:p.Ile167_Gly169del
  • NP_957705.1:p.Ile167_Gly169del
  • NC_000001.10:g.197297974_197297982del
  • NC_000001.10:g.197297974_197297982delGATGGAATT
  • NC_000001.10:g.197297974_197297982delGATGGAATT
  • NC_000001.10:g.197297979_197297987del
  • NC_000001.10:g.197297979_197297987delAATTGATGG
  • NM_001257965.1:c.291_299delAATTGATGG
  • NM_201253.2:c.498_506del
  • NM_201253.2:c.498_506del9
  • NM_201253.2:c.498_506delAATTGATGG
  • NR_047563.2:n.659_667del
  • NR_047564.2:n.659_667del
Links:
dbSNP: rs398124615
NCBI 1000 Genomes Browser:
rs398124615
Molecular consequence:
  • NM_001193640.2:c.498_506del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001257965.2:c.291_299del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001257966.2:c.498_506del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_201253.3:c.498_506del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NR_047563.2:n.659_667del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_047564.2:n.659_667del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Leber congenital amaurosis 1 (LCA1)
Synonyms:
AMAUROSIS CONGENITA OF LEBER I; Congenital absence of the rods and cones; Leber's congenital tapetoretinal degeneration; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008764; MedGen: C2931258; Orphanet: 65; OMIM: 204000

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001135495Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2017)		Likely pathogenic
(May 28, 2019) 		unknownclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Mendelics, SCV001135495.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 2, 2024