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NM_001276345.2(TNNT2):c.321G>T (p.Lys107Asn) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 19, 2011
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:
RCV000223847.1

Allele description [Variation Report for NM_001276345.2(TNNT2):c.321G>T (p.Lys107Asn)]

NM_001276345.2(TNNT2):c.321G>T (p.Lys107Asn)

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.321G>T (p.Lys107Asn)
HGVS:
  • NC_000001.11:g.201365281C>A
  • NG_007556.1:g.17397G>T
  • NM_000364.4:c.321G>T
  • NM_001001430.3:c.291G>T
  • NM_001001431.3:c.291G>T
  • NM_001001432.3:c.276G>T
  • NM_001276345.2:c.321G>TMANE SELECT
  • NM_001276346.2:c.291+329G>T
  • NM_001276347.2:c.291G>T
  • NP_000355.2:p.Lys107Asn
  • NP_001001430.1:p.Lys97Asn
  • NP_001001431.1:p.Lys97Asn
  • NP_001001432.1:p.Lys92Asn
  • NP_001263274.1:p.Lys107Asn
  • NP_001263276.1:p.Lys97Asn
  • LRG_431t1:c.321G>T
  • LRG_431:g.17397G>T
  • LRG_431p1:p.Lys107Asn
  • NC_000001.10:g.201334409C>A
  • NM_001001430.1:c.291G>T
  • NM_001001430.2:c.291G>T
  • NM_001001430.3:c.291G>T
  • NM_001001431.2:c.291G>T
  • c.291G>T
Protein change:
K107N
Links:
dbSNP: rs397516459
NCBI 1000 Genomes Browser:
rs397516459
Molecular consequence:
  • NM_001276346.2:c.291+329G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000364.4:c.321G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001001430.3:c.291G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001001431.3:c.291G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001001432.3:c.276G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276345.2:c.321G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276347.2:c.291G>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000280520Stanford Center for Inherited Cardiovascular Disease, Stanford University
no assertion criteria provided
Uncertain significance
(Dec 19, 2011) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided1not providednot providednot providednot providedclinical testing

Details of each submission

From Stanford Center for Inherited Cardiovascular Disease, Stanford University, SCV000280520.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

Note this variant was found in clinical genetic testing performed by one or more labs who may also submit to ClinVar. Thus any internal case data may overlap with the internal case data of other labs. The interpretation reviewed below is that of the Stanford Center for Inherited Cardiovascular Disease

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not providednot providednot provided

Last Updated: Nov 3, 2024