NM_001289808.2(CRYAB):c.116C>T (p.Pro39Leu) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Jul 1, 2016)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000154694.2

Allele description [Variation Report for NM_001289808.2(CRYAB):c.116C>T (p.Pro39Leu)]

NM_001289808.2(CRYAB):c.116C>T (p.Pro39Leu)

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.116C>T (p.Pro39Leu)
HGVS:
  • NC_000011.10:g.111911609G>A
  • NG_009824.2:g.17114C>T
  • NG_009824.3:g.17114C>T
  • NG_033080.1:g.3874G>A
  • NG_033080.2:g.3874G>A
  • NM_001289807.1:c.116C>T
  • NM_001289808.2:c.116C>TMANE SELECT
  • NM_001368245.1:c.116C>T
  • NM_001885.3:c.116C>T
  • NP_001276736.1:p.Pro39Leu
  • NP_001276737.1:p.Pro39Leu
  • NP_001355174.1:p.Pro39Leu
  • NP_001876.1:p.Pro39Leu
  • LRG_407t1:c.116C>T
  • LRG_407t2:c.116C>T
  • LRG_407:g.17114C>T
  • LRG_407p1:p.Pro39Leu
  • LRG_407p2:p.Pro39Leu
  • NC_000011.9:g.111782333G>A
  • NM_001885.1:c.116C>T
  • NM_001885.2:c.116C>T
Protein change:
P39L
Links:
dbSNP: rs149787233
NCBI 1000 Genomes Browser:
rs149787233
Molecular consequence:
  • NM_001289807.1:c.116C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001289808.2:c.116C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368245.1:c.116C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001885.3:c.116C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000204373Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Uncertain significance
(Apr 12, 2013)
germlineclinical testing

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

SCV000594225Genetic Services Laboratory,University of Chicagocriteria provided, single submitter
Uncertain significance
(Jul 1, 2016)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical testing
not providedgermlinenonot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

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 Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000204373.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

The Pro39Leu variant in CRYAB has not been reported in individuals with cardiomy opathy, but has been identified in 5/8594 European American chromosomes by the N HLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs1497872 33). Computational analyses (biochemical amino acid properties, conservation, Al ignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an im pact to the protein. Additional information is needed to fully assess the clinic al significance of this variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

From Genetic Services Laboratory,University of Chicago, SCV000594225.1

#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: Nov 27, 2021

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