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NM_201253.3(CRB1):c.1431del (p.Ser478fs) AND Pigmented paravenous retinochoroidal atrophy

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:
RCV003449467.1

Allele description [Variation Report for NM_201253.3(CRB1):c.1431del (p.Ser478fs)]

NM_201253.3(CRB1):c.1431del (p.Ser478fs)

Gene:
CRB1:crumbs cell polarity complex component 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1q31.3
Genomic location:
Preferred name:
NM_201253.3(CRB1):c.1431del (p.Ser478fs)
HGVS:
  • NC_000001.11:g.197421259del
  • NG_008483.2:g.224798del
  • NM_001193640.2:c.1095del
  • NM_001257965.2:c.1224del
  • NM_001257966.2:c.1431del
  • NM_201253.3:c.1431delMANE SELECT
  • NP_001180569.1:p.Ser366fs
  • NP_001244894.1:p.Ser409fs
  • NP_001244895.1:p.Ser478fs
  • NP_957705.1:p.Ser478fs
  • NC_000001.10:g.197390387del
  • NC_000001.10:g.197390389del
  • NM_201253.2:c.1431del
  • NM_201253.2:c.1431delG
  • NM_201253.3:c.1431delGMANE SELECT
  • NR_047563.2:n.1592del
  • NR_047564.2:n.1592del
Protein change:
S366fs
Links:
dbSNP: rs1553260321
NCBI 1000 Genomes Browser:
rs1553260321
Molecular consequence:
  • NM_001193640.2:c.1095del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001257965.2:c.1224del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001257966.2:c.1431del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_201253.3:c.1431del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_047563.2:n.1592del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_047564.2:n.1592del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004179921Genome-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, SCV004179921.1

#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