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NM_001289808.2(CRYAB):c.115C>T (p.Pro39Ser) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 24, 2020
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV002352426.2

Allele description [Variation Report for NM_001289808.2(CRYAB):c.115C>T (p.Pro39Ser)]

NM_001289808.2(CRYAB):c.115C>T (p.Pro39Ser)

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.115C>T (p.Pro39Ser)
HGVS:
  • NC_000011.10:g.111911610G>A
  • NG_009824.3:g.17113C>T
  • NG_033080.2:g.3875G>A
  • NM_001289807.1:c.115C>T
  • NM_001289808.2:c.115C>TMANE SELECT
  • NM_001368245.1:c.115C>T
  • NM_001885.3:c.115C>T
  • NP_001276736.1:p.Pro39Ser
  • NP_001276737.1:p.Pro39Ser
  • NP_001355174.1:p.Pro39Ser
  • NP_001876.1:p.Pro39Ser
  • LRG_407t1:c.115C>T
  • LRG_407t2:c.115C>T
  • LRG_407:g.17113C>T
  • LRG_407p1:p.Pro39Ser
  • LRG_407p2:p.Pro39Ser
  • NC_000011.9:g.111782334G>A
  • NG_009824.2:g.17113C>T
  • NG_033080.1:g.3875G>A
  • NM_001885.1:c.115C>T
  • NM_001885.2:c.115C>T
Protein change:
P39S
Links:
dbSNP: rs145768025
NCBI 1000 Genomes Browser:
rs145768025
Molecular consequence:
  • NM_001289807.1:c.115C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001289808.2:c.115C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368245.1:c.115C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001885.3:c.115C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002621732Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 24, 2020) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002621732.2

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

Description

The p.P39S variant (also known as c.115C>T), located in coding exon 1 of the CRYAB gene, results from a C to T substitution at nucleotide position 115. The proline at codon 39 is replaced by serine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species; however, serine is the reference amino acid in other 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
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 1, 2024