NM_201253.3(CRB1):c.1298A>G (p.Tyr433Cys) AND not provided

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Mar 18, 2021
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:: RCV000086306.3

Allele description [Variation Report for NM_201253.3(CRB1):c.1298A>G (p.Tyr433Cys)]

NM_201253.3(CRB1):c.1298A>G (p.Tyr433Cys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q31.3

Genomic location:

Preferred name:

NM_201253.3(CRB1):c.1298A>G (p.Tyr433Cys)

HGVS:

NC_000001.11:g.197421126A>G
NG_008483.2:g.224665A>G
NM_001193640.2:c.962A>G
NM_001257965.2:c.1091A>G
NM_001257966.2:c.1298A>G
NM_201253.3:c.1298A>GMANE SELECT
NP_001180569.1:p.Tyr321Cys
NP_001244894.1:p.Tyr364Cys
NP_001244895.1:p.Tyr433Cys
NP_957705.1:p.Tyr433Cys
NC_000001.10:g.197390256A>G
NM_201253.2:c.1298A>G
NR_047563.2:n.1459A>G
NR_047564.2:n.1459A>G
P82279:p.Tyr433Cys

Protein change:

Y321C

Links:

UniProtKB: P82279#VAR_022947; dbSNP: rs62636288

NCBI 1000 Genomes Browser:

rs62636288

Molecular consequence:

NM_001193640.2:c.962A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001257965.2:c.1091A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001257966.2:c.1298A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_201253.3:c.1298A>G - missense variant - [Sequence Ontology: SO:0001583]
NR_047563.2:n.1459A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_047564.2:n.1459A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000118452	Retina International	no classification provided	not provided	not provided	not provided
SCV001985143	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Mar 18, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000118452

Retina International

no classification provided

not provided

SCV001985143

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Mar 18, 2021)

germline

clinical testing

Citation Link

Description

http://phencode.bx.psu.edu/cgi-bin/phencode/phencode?build=hg19&id=RISN_CRB1:c.1298A>G: SCV000118452

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	not provided	not provided	not provided	not provided	not provided	1	not provided	literature only

Details of each submission

From Retina International, SCV000118452.1

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

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

From GeneDx, SCV001985143.2

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

Description

In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Observed with the S403X pathogenic variant on the same allele and with a different pathogenic variant on the opposite allele in a patient with a CRB1-related retinal dystrophy in published literature (den Hollander et al., 2001); This variant is associated with the following publications: (PMID: 11389483, 12843338, 16123401)

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

Last Updated: Mar 4, 2023

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