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NM_201253.3(CRB1):c.1431del (p.Ser478fs) AND Leber congenital amaurosis

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 16, 2020
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:
RCV001275647.1

Allele description [Variation Report for NM_201253.3(CRB1):c.1431del (p.Ser478fs)]

NM_201253.3(CRB1):c.1431del (p.Ser478fs)

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.1431del (p.Ser478fs)
HGVS:
  • NC_000001.11:g.197421259del
  • NG_008483.2:g.224798del
  • NM_001193640.2:c.1095del
  • NM_001257965.2:c.1224del
  • NM_001257966.2:c.1431del
  • NM_201253.3:c.1431delMANE SELECT
  • NP_001180569.1:p.Ser366fs
  • NP_001244894.1:p.Ser409fs
  • NP_001244895.1:p.Ser478fs
  • NP_957705.1:p.Ser478fs
  • NC_000001.10:g.197390387del
  • NC_000001.10:g.197390389del
  • NM_201253.2:c.1431del
  • NM_201253.2:c.1431delG
  • NM_201253.3:c.1431delGMANE SELECT
  • NR_047563.2:n.1592del
  • NR_047564.2:n.1592del
Protein change:
S366fs
Links:
dbSNP: rs1553260321
NCBI 1000 Genomes Browser:
rs1553260321
Molecular consequence:
  • NM_001193640.2:c.1095del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001257965.2:c.1224del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001257966.2:c.1431del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_201253.3:c.1431del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_047563.2:n.1592del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_047564.2:n.1592del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Leber congenital amaurosis (LCA)
Synonyms:
Congenital retinal blindness; Leber's amaurosis
Identifiers:
MONDO: MONDO:0018998; MeSH: D057130; MedGen: C0339527; OMIM: PS204000

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001460938Natera, Inc.
no assertion criteria provided
Pathogenic
(Sep 16, 2020) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV001460938.1

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

Last Updated: May 7, 2024