NM_201253.3(CRB1):c.1455_1458dup (p.Ser487fs) AND Leber congenital amaurosis 1

Germline classification:: 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:: RCV000986488.1

Allele description [Variation Report for NM_201253.3(CRB1):c.1455_1458dup (p.Ser487fs)]

NM_201253.3(CRB1):c.1455_1458dup (p.Ser487fs)

Gene:

CRB1:crumbs cell polarity complex component 1 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

1q31.3

Genomic location:

Preferred name:

NM_201253.3(CRB1):c.1455_1458dup (p.Ser487fs)

HGVS:

NC_000001.11:g.197421283_197421286dup
NG_008483.2:g.224822_224825dup
NM_001193640.2:c.1119_1122dup
NM_001257965.2:c.1248_1251dup
NM_001257966.2:c.1455_1458dup
NM_201253.3:c.1455_1458dupMANE SELECT
NP_001180569.1:p.Ser375fs
NP_001244894.1:p.Ser418fs
NP_001244895.1:p.Ser487fs
NP_957705.1:p.Ser487fs
NC_000001.10:g.197390412_197390413insACTT
NC_000001.10:g.197390413_197390416dup
NR_047563.2:n.1616_1619dup
NR_047564.2:n.1616_1619dup

Protein change:

S375fs

Links:

dbSNP: rs1571523319

NCBI 1000 Genomes Browser:

rs1571523319

Molecular consequence:

NM_001193640.2:c.1119_1122dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001257965.2:c.1248_1251dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001257966.2:c.1455_1458dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_201253.3:c.1455_1458dup - frameshift variant - [Sequence Ontology: SO:0001589]
NR_047563.2:n.1616_1619dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_047564.2:n.1616_1619dup - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001135500	Mendelics	criteria provided, single submitter (Mendelics Assertion Criteria 2017)	Pathogenic (May 28, 2019)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001135500

Mendelics

criteria provided, single submitter

(Mendelics Assertion Criteria 2017)

Pathogenic
(May 28, 2019)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Mendelics, SCV001135500.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 6, 2024

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