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NM_201253.3(CRB1):c.2843-3dup AND Pigmented paravenous retinochoroidal atrophy

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:
RCV003446761.1

Allele description [Variation Report for NM_201253.3(CRB1):c.2843-3dup]

NM_201253.3(CRB1):c.2843-3dup

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.2843-3dup
HGVS:
  • NC_000001.11:g.197434703dup
  • NG_008483.2:g.238242dup
  • NM_001193640.2:c.2507-3dup
  • NM_001257965.2:c.2771-3dup
  • NM_001257966.2:c.2129-897dup
  • NM_201253.3:c.2843-3dupMANE SELECT
  • NC_000001.10:g.197403831_197403832insT
  • NC_000001.10:g.197403833dup
Links:
dbSNP: rs776525385
NCBI 1000 Genomes Browser:
rs776525385
Molecular consequence:
  • NM_001193640.2:c.2507-3dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001257965.2:c.2771-3dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001257966.2:c.2129-897dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_201253.3:c.2843-3dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Pigmented paravenous retinochoroidal atrophy
Synonyms:
Pigmented paravenous chorioretinal atrophy
Identifiers:
MONDO: MONDO:0008246; MedGen: C1868310; Orphanet: 251295; OMIM: 172870

Recent activity

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004172609Genome-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, SCV004172609.1

#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