NM_201253.3(CRB1):c.2533_2539del (p.Gly845fs) AND Leber congenital amaurosis 8

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Aug 14, 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:: RCV003455002.2

Allele description [Variation Report for NM_201253.3(CRB1):c.2533_2539del (p.Gly845fs)]

NM_201253.3(CRB1):c.2533_2539del (p.Gly845fs)

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.2533_2539del (p.Gly845fs)

HGVS:

NC_000001.10:g.197396986_197396992del
NC_000001.11:g.197427858_197427864del
NG_008483.2:g.231397_231403del
NM_001193640.2:c.2197_2203del
NM_001257965.2:c.2326_2332del
NM_001257966.2:c.2128+5902_2128+5908del
NM_201253.3:c.2533_2539delMANE SELECT
NP_001180569.1:p.Gly733fs
NP_001244894.1:p.Gly776fs
NP_957705.1:p.Gly845fs
NC_000001.10:g.197396986_197396992del
NC_000001.10:g.197396986_197396992delATGGTGG
NC_000001.10:g.197396988_197396994del
NM_201253.2:c.2533_2539del
NR_047563.2:n.2486_2492del
NR_047564.2:n.2694_2700del

Protein change:

G733fs

Links:

dbSNP: rs745348555

NCBI 1000 Genomes Browser:

rs745348555

Molecular consequence:

NM_001193640.2:c.2197_2203del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001257965.2:c.2326_2332del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_201253.3:c.2533_2539del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001257966.2:c.2128+5902_2128+5908del - intron variant - [Sequence Ontology: SO:0001627]
NR_047563.2:n.2486_2492del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_047564.2:n.2694_2700del - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004180060	Genome-Nilou Lab	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Apr 11, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004211158	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Aug 14, 2023)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004180060

Genome-Nilou Lab

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Apr 11, 2023)

germline

clinical testing

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

SCV004211158

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Aug 14, 2023)

unknown

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	no	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

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 Genome-Nilou Lab, SCV004180060.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Baylor Genetics, SCV004211158.1

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

#	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: Oct 8, 2024

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