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

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 7, 2021
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:
RCV004018795.1

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:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004968976Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 7, 2021) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV004968976.1

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

Description

The c.230C>T (p.P77L) alteration is located in exon 8 (coding exon 7) of the TNNT2 gene. This alteration results from a C to T substitution at nucleotide position 230, causing the proline (P) at amino acid position 77 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Oct 13, 2024