U.S. flag

An official website of the United States government

NM_001276345.2(TNNT2):c.260C>T (p.Pro87Leu) AND Primary familial hypertrophic cardiomyopathy

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 1, 2014
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:
RCV000148902.3

Allele description [Variation Report for NM_001276345.2(TNNT2):c.260C>T (p.Pro87Leu)]

NM_001276345.2(TNNT2):c.260C>T (p.Pro87Leu)

Gene:
TNNT2:troponin T2, cardiac type [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q32.1
Genomic location:
Preferred name:
NM_001276345.2(TNNT2):c.260C>T (p.Pro87Leu)
HGVS:
  • NC_000001.11:g.201365644G>A
  • NG_007556.1:g.17034C>T
  • NM_000364.4:c.260C>T
  • NM_001001430.3:c.230C>T
  • NM_001001431.3:c.230C>T
  • NM_001001432.3:c.215C>T
  • NM_001276345.2:c.260C>TMANE SELECT
  • NM_001276346.2:c.257C>T
  • NM_001276347.2:c.230C>T
  • NP_000355.2:p.Pro87Leu
  • NP_001001430.1:p.Pro77Leu
  • NP_001001431.1:p.Pro77Leu
  • NP_001001432.1:p.Pro72Leu
  • NP_001263274.1:p.Pro87Leu
  • NP_001263275.1:p.Pro86Leu
  • NP_001263276.1:p.Pro77Leu
  • LRG_431t1:c.260C>T
  • LRG_431:g.17034C>T
  • LRG_431p1:p.Pro87Leu
  • NC_000001.10:g.201334772G>A
  • NM_000364.2:c.260C>T
  • NM_001001430.1:c.230C>T
  • NM_001001430.2:c.230C>T
  • NM_001276345.2:c.260C>T
  • c.230C>T
Protein change:
P72L
Links:
dbSNP: rs144900708
NCBI 1000 Genomes Browser:
rs144900708
Molecular consequence:
  • NM_000364.4:c.260C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001001430.3:c.230C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001001431.3:c.230C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001001432.3:c.215C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276345.2:c.260C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276346.2:c.257C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276347.2:c.230C>T - 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

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
SCV000190648CSER _CC_NCGL, University of Washington - ESP 6500 variant annotation
no assertion criteria provided
Uncertain significance
(Jun 1, 2014) 		germlineresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedresearch

Details of each submission

From CSER _CC_NCGL, University of Washington - ESP 6500 variant annotation, SCV000190648.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 13, 2024