U.S. flag

An official website of the United States government

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:
RCV002352426.1

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]
Observations:
1

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

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

(Ambry General Variant Classification Scheme_2022)		Uncertain significance
(Dec 24, 2020) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV002621732.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not 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
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Apr 6, 2024