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NM_001276345.2(TNNT2):c.412G>A (p.Glu138Lys) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 28, 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:
RCV000159289.2

Allele description [Variation Report for NM_001276345.2(TNNT2):c.412G>A (p.Glu138Lys)]

NM_001276345.2(TNNT2):c.412G>A (p.Glu138Lys)

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.412G>A (p.Glu138Lys)
Other names:
p.E128K:GAG>AAG
HGVS:
  • NC_000001.11:g.201364375C>T
  • NG_007556.1:g.18303G>A
  • NM_000364.4:c.412G>A
  • NM_001001430.2:c.382G>A
  • NM_001001430.3:c.382G>A
  • NM_001001431.3:c.382G>A
  • NM_001001432.3:c.367G>A
  • NM_001276345.2:c.412G>AMANE SELECT
  • NM_001276346.2:c.292G>A
  • NM_001276347.2:c.382G>A
  • NP_000355.2:p.Glu138Lys
  • NP_001001430.1:p.Glu128Lys
  • NP_001001431.1:p.Glu128Lys
  • NP_001001432.1:p.Glu123Lys
  • NP_001263274.1:p.Glu138Lys
  • NP_001263275.1:p.Glu98Lys
  • NP_001263276.1:p.Glu128Lys
  • LRG_431t1:c.412G>A
  • LRG_431:g.18303G>A
  • LRG_431p1:p.Glu138Lys
  • NC_000001.10:g.201333503C>T
  • NM_001001430.1:c.382G>A
  • NM_001276345.2:c.412G>A
Protein change:
E123K
Links:
dbSNP: rs730881100
NCBI 1000 Genomes Browser:
rs730881100
Molecular consequence:
  • NM_000364.4:c.412G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001001430.3:c.382G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001001431.3:c.382G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001001432.3:c.367G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276345.2:c.412G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276346.2:c.292G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276347.2:c.382G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000209235GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Jan 28, 2020) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000209235.9

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

Description

Reported in association with HCM (also reported as E138K using alternate nomenclature); at least two individuals were reported to also harbor variants in the MYH7 gene (Liu et al., 2013; Zou et al., 2013); Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 23283745, 23711808)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2024