U.S. flag

An official website of the United States government

NM_000554.6(CRX):c.761_804dup (p.Phe269fs) AND CRX-related disorder

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Sep 8, 2022
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:
RCV003420914.4

Allele description [Variation Report for NM_000554.6(CRX):c.761_804dup (p.Phe269fs)]

NM_000554.6(CRX):c.761_804dup (p.Phe269fs)

Gene:
CRX:cone-rod homeobox [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
19q13.33
Genomic location:
Preferred name:
NM_000554.6(CRX):c.761_804dup (p.Phe269fs)
HGVS:
  • NC_000019.10:g.47839828_47839871dup
  • NG_008605.1:g.22987_23030dup
  • NG_141724.1:g.374_417dup
  • NM_000554.6:c.761_804dupMANE SELECT
  • NP_000545.1:p.Phe269fs
  • NC_000019.9:g.48343085_48343128dup
  • NM_000554.5:c.761_804dup44
Protein change:
F269fs
Molecular consequence:
  • NM_000554.6:c.761_804dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
CRX-related disorder
Synonyms:
CRX-related condition
Identifiers:

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
SCV004117041PreventionGenetics, part of Exact Sciences
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Sep 8, 2022) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot 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 PreventionGenetics, part of Exact Sciences, SCV004117041.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The CRX c.761_804dup44 variant is predicted to result in a frameshift and premature protein termination (p.Phe269Glnfs*117). To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. However, frameshift variants in CRX are expected to be pathogenic and have been reported in patients with Leber congenital amaurosis and cone-rod retinal dystrophy phenotypes (Xu et al. 2020. PubMed ID: 31630094; Stone. 2007. PubMed ID: 17964524; HGMD: Human Gene Mutation Database). Taken together, this variant is interpreted as likely pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 19, 2024