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NM_007078.3(LDB3):c.358C>A (p.Pro120Thr) AND Primary familial hypertrophic cardiomyopathy

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 17, 2013
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:
RCV000143909.1

Allele description [Variation Report for NM_007078.3(LDB3):c.358C>A (p.Pro120Thr)]

NM_007078.3(LDB3):c.358C>A (p.Pro120Thr)

Gene:
LDB3:LIM domain binding 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q23.2
Genomic location:
Preferred name:
NM_007078.3(LDB3):c.358C>A (p.Pro120Thr)
HGVS:
  • NC_000010.11:g.86681472C>A
  • NG_008876.1:g.17909C>A
  • NM_001080114.2:c.321+1315C>A
  • NM_001080115.2:c.358C>A
  • NM_001080116.1:c.321+1315C>A
  • NM_001171610.2:c.358C>A
  • NM_001171611.2:c.358C>A
  • NM_001368063.1:c.358C>A
  • NM_001368064.1:c.358C>A
  • NM_001368065.1:c.358C>A
  • NM_001368066.1:c.321+1315C>A
  • NM_001368067.1:c.321+1315C>A
  • NM_001368068.1:c.321+1315C>A
  • NM_007078.3:c.358C>AMANE SELECT
  • NP_001073584.1:p.Pro120Thr
  • NP_001165081.1:p.Pro120Thr
  • NP_001165082.1:p.Pro120Thr
  • NP_001354992.1:p.Pro120Thr
  • NP_001354993.1:p.Pro120Thr
  • NP_001354994.1:p.Pro120Thr
  • NP_009009.1:p.Pro120Thr
  • LRG_385t2:c.321+1315C>A
  • LRG_385:g.17909C>A
  • NC_000010.10:g.88441229C>A
  • NM_001171610.1:c.358C>A
Protein change:
P120T
Links:
dbSNP: rs587782955
NCBI 1000 Genomes Browser:
rs587782955
Molecular consequence:
  • NM_001080114.2:c.321+1315C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001080116.1:c.321+1315C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368066.1:c.321+1315C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368067.1:c.321+1315C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368068.1:c.321+1315C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001080115.2:c.358C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001171610.2:c.358C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001171611.2:c.358C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368063.1:c.358C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368064.1:c.358C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368065.1:c.358C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007078.3:c.358C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Primary familial hypertrophic cardiomyopathy (HCM)
Synonyms:
Hereditary ventricular hypertrophy; Idiopathic hypertrophic subaortic stenosis
Identifiers:
MONDO: MONDO:0024573; MeSH: D024741; MedGen: C0949658; OMIM: PS192600

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000188780Blueprint Genetics
no assertion criteria provided
Uncertain significance
(Dec 17, 2013) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Blueprint Genetics, SCV000188780.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 11, 2023