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NM_001289808.2(CRYAB):c.58C>T (p.Pro20Ser) AND Cataract 16 multiple types

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 1, 2006
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:
RCV000034841.37

Allele description [Variation Report for NM_001289808.2(CRYAB):c.58C>T (p.Pro20Ser)]

NM_001289808.2(CRYAB):c.58C>T (p.Pro20Ser)

Gene:
CRYAB:crystallin alpha B [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q23.1
Genomic location:
Preferred name:
NM_001289808.2(CRYAB):c.58C>T (p.Pro20Ser)
HGVS:
  • NC_000011.10:g.111911667G>A
  • NG_009824.3:g.17056C>T
  • NG_033080.2:g.3932G>A
  • NM_001289807.1:c.58C>T
  • NM_001289808.2:c.58C>TMANE SELECT
  • NM_001368245.1:c.58C>T
  • NM_001885.3:c.58C>T
  • NP_001276736.1:p.Pro20Ser
  • NP_001276737.1:p.Pro20Ser
  • NP_001355174.1:p.Pro20Ser
  • NP_001876.1:p.Pro20Ser
  • LRG_407t1:c.58C>T
  • LRG_407t2:c.58C>T
  • LRG_407:g.17056C>T
  • LRG_407p1:p.Pro20Ser
  • LRG_407p2:p.Pro20Ser
  • NC_000011.9:g.111782391G>A
  • NG_009824.2:g.17056C>T
  • NG_033080.1:g.3932G>A
  • NM_001885.1:c.58C>T
Protein change:
P20S; PRO20SER
Links:
OMIM: 123590.0009; dbSNP: rs387907337
NCBI 1000 Genomes Browser:
rs387907337
Molecular consequence:
  • NM_001289807.1:c.58C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001289808.2:c.58C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368245.1:c.58C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001885.3:c.58C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cataract 16 multiple types
Synonyms:
CATARACT 16, POSTERIOR POLAR; CATARACT 16, CONGENITAL LAMELLAR; CATARACT, CONGENITAL LAMELLAR
Identifiers:
MONDO: MONDO:0013411; MedGen: C3808377; Orphanet: 91492; Orphanet: 98992; Orphanet: 98993; Orphanet: 98995; OMIM: 613763

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000058411OMIM
no assertion criteria provided
Pathogenic
(Aug 1, 2006) 		germlineliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

Identification of a CRYAB mutation associated with autosomal dominant posterior polar cataract in a Chinese family.

Liu M, Ke T, Wang Z, Yang Q, Chang W, Jiang F, Tang Z, Li H, Ren X, Wang X, Wang T, Li Q, Yang J, Liu J, Wang QK.

Invest Ophthalmol Vis Sci. 2006 Aug;47(8):3461-6.

PubMed [citation]
PMID:
16877416

Details of each submission

From OMIM, SCV000058411.3

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

Description

In 13 affected members of a 4-generation Chinese family with congenital posterior polar cataract (CTRCT16; 613763), Liu et al. (2006) identified heterozygosity for a 58C-T transition in exon 1 of the CRYAB gene, resulting in a pro20-to-ser (P20S) substitution at a highly conserved residue in the N-terminal region of alpha-B crystallin. The mutation was not found in 8 unaffected family members or in 200 controls.

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

Last Updated: Oct 13, 2024