NM_006891.3(CRYGD):c.70C>T (p.Pro24Ser) AND Cataract 4

Clinical significance:Pathogenic (Last evaluated: Sep 1, 2007)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000018451.30

Allele description [Variation Report for NM_006891.3(CRYGD):c.70C>T (p.Pro24Ser)]

NM_006891.3(CRYGD):c.70C>T (p.Pro24Ser)

Genes:
CRYGD:crystallin gamma D [Gene - OMIM - HGNC]
LOC100507443:uncharacterized LOC100507443 [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
2q33.3
Genomic location:
Preferred name:
NM_006891.3(CRYGD):c.70C>T (p.Pro24Ser)
HGVS:
  • NC_000002.12:g.208124294G>A
  • NG_008039.1:g.5296C>T
  • NM_006891.3:c.70C>T
  • NP_008822.2:p.Pro24Ser
  • NC_000002.11:g.208989018G>A
  • P07320:p.Pro24Ser
Protein change:
P24S; PRO24SER
Links:
UniProtKB: P07320#VAR_034955; OMIM: 123690.0007; dbSNP: 28931605
NCBI 1000 Genomes Browser:
rs28931605
Molecular consequence:
  • NM_006891.3:c.70C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cataract 4 (CTRCT4)
Synonyms:
CATARACT, NONNUCLEAR POLYMORPHIC CONGENITAL; CATARACT, PUNCTATE, PROGRESSIVE JUVENILE-ONSET; CATARACT 4, PUNCTATE; See all synonyms [MedGen]
Identifiers:
MedGen: C1861832; Orphanet: 1377; OMIM: 115700

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000038733OMIMno assertion criteria providedPathogenic
(Sep 1, 2007)
germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8.

Hansen L, Yao W, Eiberg H, Kjaer KW, Baggesen K, Hejtmancik JF, Rosenberg T.

Invest Ophthalmol Vis Sci. 2007 Sep;48(9):3937-44.

PubMed [citation]
PMID:
17724170

Conversion and compensatory evolution of the gamma-crystallin genes and identification of a cataractogenic mutation that reverses the sequence of the human CRYGD gene to an ancestral state.

Plotnikova OV, Kondrashov FA, Vlasov PK, Grigorenko AP, Ginter EK, Rogaev EI.

Am J Hum Genet. 2007 Jul;81(1):32-43. Epub 2007 May 16.

PubMed [citation]
PMID:
17564961
PMCID:
PMC1950927

Details of each submission

From OMIM, SCV000038733.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

Based on a new numbering system, this variant has been changed from PRO23SER to PRO24SER; see Hansen et al. (2007).

In a large kindred of mixed white and Mongolian origin with polymorphic congenital cataract (CTRCT4; 115700), Plotnikova et al. (2007) found a 70C-T transition in exon 2 of the CRYGD gene that resulted in a pro23-to-ser (P23S) substitution.

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

Last Updated: Sep 5, 2017