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NM_001276345.2(TNNT2):c.508GAG[3] (p.Glu173del) AND Hypertrophic cardiomyopathy 2

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Sep 27, 2022
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:
RCV002286700.1

Allele description [Variation Report for NM_001276345.2(TNNT2):c.508GAG[3] (p.Glu173del)]

NM_001276345.2(TNNT2):c.508GAG[3] (p.Glu173del)

Gene:
TNNT2:troponin T2, cardiac type [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
1q32.1
Genomic location:
Preferred name:
NM_001276345.2(TNNT2):c.508GAG[3] (p.Glu173del)
HGVS:
  • NC_000001.10:g.201332505_201332507del
  • NC_000001.11:g.201363377CTC[3]
  • NG_007556.1:g.19290GAG[3]
  • NM_000364.4:c.508GAG[3]
  • NM_001001430.3:c.478GAG[3]
  • NM_001001431.3:c.478GAG[3]
  • NM_001001432.3:c.463GAG[3]
  • NM_001276345.2:c.508GAG[3]MANE SELECT
  • NM_001276346.2:c.388GAG[3]
  • NM_001276347.2:c.478GAG[3]
  • NP_000355.2:p.Glu173del
  • NP_001001430.1:p.Glu163del
  • NP_001001431.1:p.Glu163del
  • NP_001001432.1:p.Glu158del
  • NP_001263274.1:p.Glu173del
  • NP_001263275.1:p.Glu133del
  • NP_001263276.1:p.Glu163del
  • LRG_431t1:c.508GAG[3]
  • LRG_431:g.19290GAG[3]
  • LRG_431p1:p.Glu173del
  • NC_000001.10:g.201332505CTC[3]
  • NC_000001.10:g.201332505_201332507del
  • NC_000001.10:g.201332505_201332507delCTC
  • NC_000001.10:g.201332514_201332516del
  • NM_000364.2:c.517_519del
  • NM_000364.3:c.517_519delGAG
  • NM_001001430.1:c.487_489del
  • NM_001001430.1:c.487_489delGAG
  • NM_001001430.2:c.487_489del
  • NM_001001430.2:c.487_489delGAG
  • c.487_489delGAG
Protein change:
E133del
Links:
dbSNP: rs397516470
NCBI 1000 Genomes Browser:
rs397516470
Molecular consequence:
  • NM_000364.4:c.508GAG[3] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001001430.3:c.478GAG[3] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001001431.3:c.478GAG[3] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001001432.3:c.463GAG[3] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001276345.2:c.508GAG[3] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001276346.2:c.388GAG[3] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001276347.2:c.478GAG[3] - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:
Hypertrophic cardiomyopathy 2
Synonyms:
Familial hypertrophic cardiomyopathy 2; TNNT2-Related Familial Hypertrophic Cardiomyopathy
Identifiers:
MONDO: MONDO:0007266; MedGen: C1861864; OMIM: 115195

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002577349Cardiology unit, Meyer University Hospital
no assertion criteria provided
Likely pathogenic
(Sep 27, 2022) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Cardiology unit, Meyer University Hospital, SCV002577349.1

#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: Sep 29, 2024