NM_201253.3(CRB1):c.1431del (p.Ser478fs) AND Leber congenital amaurosis 8

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Dec 24, 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:: RCV003449466.3

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 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
SCV004179920	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]
SCV004211176	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Dec 24, 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

SCV004179920

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]

SCV004211176

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Dec 24, 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	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	no	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, SCV004179920.1

#	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, SCV004211176.2

#	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: Sep 29, 2024

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