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

Clinical significance:Uncertain significance (Last evaluated: Jan 21, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000617272.1

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)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000735832Ambry Geneticscriteria provided, single submitter
Uncertain significance
(Jan 21, 2019)
germlineclinical testing

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

Novel Genetic Triggers and Genotype-Phenotype Correlations in Patients With Left Ventricular Noncompaction.

Miszalski-Jamka K, Jefferies JL, Mazur W, Głowacki J, Hu J, Lazar M, Gibbs RA, Liczko J, Kłyś J, Venner E, Muzny DM, Rycaj J, Białkowski J, Kluczewska E, Kalarus Z, Jhangiani S, Al-Khalidi H, Kukulski T, Lupski JR, Craigen WJ, Bainbridge MN.

Circ Cardiovasc Genet. 2017 Aug;10(4). doi:pii: e001763. 10.1161/CIRCGENETICS.117.001763.

PubMed [citation]
PMID:
28798025
PMCID:
PMC5665372

Details of each submission

From Ambry Genetics, SCV000735832.3

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

Description

The p.P39L variant (also known as c.116C>T), located in coding exon 1 of the CRYAB gene, results from a C to T substitution at nucleotide position 116. The proline at codon 39 is replaced by leucine, an amino acid with similar properties. This alteration was reported in one individual with left ventricular non-compaction (LVNC) who also had a variant in another cardiac-related gene (Miszalski-Jamka K et al. Circ Cardiovasc Genet, 2017 Aug;10:). This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Nov 27, 2021

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