U.S. flag

An official website of the United States government

NM_201253.3(CRB1):c.57dup (p.Ile20fs) AND Retinitis pigmentosa 12

Germline classification:
Pathogenic (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:
RCV003455429.1

Allele description [Variation Report for NM_201253.3(CRB1):c.57dup (p.Ile20fs)]

NM_201253.3(CRB1):c.57dup (p.Ile20fs)

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.57dup (p.Ile20fs)
HGVS:
  • NC_000001.11:g.197268469dup
  • NG_008483.2:g.72008dup
  • NM_001193640.2:c.57dup
  • NM_001257965.2:c.-212-33971dup
  • NM_001257966.2:c.57dup
  • NM_201253.3:c.57dupMANE SELECT
  • NP_001180569.1:p.Ile20fs
  • NP_001244895.1:p.Ile20fs
  • NP_957705.1:p.Ile20fs
  • NC_000001.10:g.197237597_197237598insT
  • NC_000001.10:g.197237599dup
  • NM_201253.2:c.57dup
  • NM_201253.2:c.57dupT
  • NR_047563.2:n.218dup
  • NR_047564.2:n.218dup
Protein change:
I20fs
Links:
dbSNP: rs1343680080
NCBI 1000 Genomes Browser:
rs1343680080
Molecular consequence:
  • NM_001193640.2:c.57dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001257966.2:c.57dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_201253.3:c.57dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001257965.2:c.-212-33971dup - intron variant - [Sequence Ontology: SO:0001627]
  • NR_047563.2:n.218dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_047564.2:n.218dup - 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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004178793Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(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, SCV004178793.1

#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: Oct 20, 2024