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NM_201253.3(CRB1):c.4005+4AGC[3] AND Retinitis pigmentosa 12

Germline classification:
Likely benign (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:
RCV003445846.1

Allele description [Variation Report for NM_201253.3(CRB1):c.4005+4AGC[3]]

NM_201253.3(CRB1):c.4005+4AGC[3]

Gene:
CRB1:crumbs cell polarity complex component 1 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
1q31.3
Genomic location:
Preferred name:
NM_201253.3(CRB1):c.4005+4AGC[3]
HGVS:
  • NC_000001.11:g.197442296AGC[3]
  • NG_008483.2:g.245835AGC[3]
  • NM_001193640.2:c.3669+4AGC[3]
  • NM_001257965.2:c.3933+4AGC[3]
  • NM_001257966.2:c.2397+4AGC[3]
  • NM_201253.3:c.4005+4AGC[3]MANE SELECT
  • NC_000001.10:g.197411425_197411426insAGC
  • NC_000001.10:g.197411426AGC[3]
  • NM_201253.2:c.4005+7_4005+9dup
  • NM_201253.2:c.4005+7_4005+9dupAGC
  • NR_047564.2:n.4170AGC[3]
Links:
dbSNP: rs550852869
NCBI 1000 Genomes Browser:
rs550852869
Molecular consequence:
  • NM_001193640.2:c.3669+4AGC[3] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001257965.2:c.3933+4AGC[3] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001257966.2:c.2397+4AGC[3] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_201253.3:c.4005+4AGC[3] - intron variant - [Sequence Ontology: SO:0001627]
  • NR_047564.2:n.4170AGC[3] - 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
SCV004172614Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely benign
(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, SCV004172614.1

#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