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NM_020989.4(CRYGC):c.475dup (p.Ala159fs) AND CRYGC-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 30, 2023
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV003901272.2

Allele description [Variation Report for NM_020989.4(CRYGC):c.475dup (p.Ala159fs)]

NM_020989.4(CRYGC):c.475dup (p.Ala159fs)

Genes:
CRYGC:crystallin gamma C [Gene - OMIM - HGNC]
LOC100507443:uncharacterized LOC100507443 [Gene]
Variant type:
Duplication
Cytogenetic location:
2q33.3
Genomic location:
Preferred name:
NM_020989.4(CRYGC):c.475dup (p.Ala159fs)
HGVS:
  • NC_000002.12:g.208128258dup
  • NG_008038.1:g.6578dup
  • NG_008039.1:g.1337dup
  • NM_020989.3:c.475dupG
  • NM_020989.4:c.475dupMANE SELECT
  • NP_066269.1:p.Ala159fs
  • NC_000002.11:g.208992976_208992977insC
  • NC_000002.11:g.208992982dup
Protein change:
A159fs
Molecular consequence:
  • NM_020989.4:c.475dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004712627PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Pathogenic
(Oct 30, 2023) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004712627.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The CRYGC c.475dupG variant is predicted to result in a frameshift and premature protein termination (p.Ala159Glyfs*5). This variant occurs within the terminal exon of the CRYGC gene, near the stop codon. 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. At PreventionGenetics, we have detected this variant in another patient with childhood-onset cataracts (Internal Data). Frameshift variants in CRYGC are expected to be pathogenic and have been documented both up- and downstream of amino acid 159 in individuals with cataracts (Human Gene Mutation Database). This variant is interpreted as pathogenic.

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

Last Updated: Oct 13, 2024