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NM_201253.3(CRB1):c.3936C>G (p.Cys1312Trp) AND Retinitis pigmentosa 12

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 11, 2023
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:
RCV003449687.1

Allele description [Variation Report for NM_201253.3(CRB1):c.3936C>G (p.Cys1312Trp)]

NM_201253.3(CRB1):c.3936C>G (p.Cys1312Trp)

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.3936C>G (p.Cys1312Trp)
HGVS:
  • NC_000001.11:g.197442223C>G
  • NG_008483.2:g.245762C>G
  • NM_001193640.2:c.3600C>G
  • NM_001257965.2:c.3864C>G
  • NM_001257966.2:c.2328C>G
  • NM_201253.3:c.3936C>GMANE SELECT
  • NP_001180569.1:p.Cys1200Trp
  • NP_001244894.1:p.Cys1288Trp
  • NP_001244895.1:p.Cys776Trp
  • NP_957705.1:p.Cys1312Trp
  • NC_000001.10:g.197411353C>G
  • NM_201253.2:c.3936C>G
  • NR_047563.2:n.3889C>G
  • NR_047564.2:n.4097C>G
Protein change:
C1200W
Links:
dbSNP: rs1665481687
NCBI 1000 Genomes Browser:
rs1665481687
Molecular consequence:
  • NM_001193640.2:c.3600C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001257965.2:c.3864C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001257966.2:c.2328C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_201253.3:c.3936C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_047563.2:n.3889C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_047564.2:n.4097C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Retinitis pigmentosa 12 (RP12)
Synonyms:
RP 12; RP WITH OR WITHOUT PPRPE; RP WITH OR WITHOUT PRESERVED PARAARTERIOLE RETINAL PIGMENT EPITHELIUM; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010818; MedGen: C1838647; Orphanet: 791; OMIM: 600105

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004180210Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Apr 11, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot providednot providednot providednot providednot providedclinical 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, SCV004180210.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024