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NM_001276345.2(TNNT2):c.332A>G (p.Glu111Gly) AND Cardiomyopathy, familial restrictive, 3

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 11, 2023
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:
RCV003455512.1

Allele description [Variation Report for NM_001276345.2(TNNT2):c.332A>G (p.Glu111Gly)]

NM_001276345.2(TNNT2):c.332A>G (p.Glu111Gly)

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.332A>G (p.Glu111Gly)
HGVS:
  • NC_000001.11:g.201365270T>C
  • NG_007556.1:g.17408A>G
  • NM_000364.4:c.332A>G
  • NM_001001430.3:c.302A>G
  • NM_001001431.3:c.302A>G
  • NM_001001432.3:c.287A>G
  • NM_001276345.2:c.332A>GMANE SELECT
  • NM_001276346.2:c.291+340A>G
  • NM_001276347.2:c.302A>G
  • NM_001406723.1:c.332A>G
  • NM_001406724.1:c.302A>G
  • NM_001406725.1:c.299A>G
  • NM_001406726.1:c.302A>G
  • NM_001406727.1:c.302A>G
  • NM_001406728.1:c.287A>G
  • NP_000355.2:p.Glu111Gly
  • NP_001001430.1:p.Glu101Gly
  • NP_001001431.1:p.Glu101Gly
  • NP_001001432.1:p.Glu96Gly
  • NP_001263274.1:p.Glu111Gly
  • NP_001263276.1:p.Glu101Gly
  • NP_001393652.1:p.Glu111Gly
  • NP_001393653.1:p.Glu101Gly
  • NP_001393654.1:p.Glu100Gly
  • NP_001393655.1:p.Glu101Gly
  • NP_001393656.1:p.Glu101Gly
  • NP_001393657.1:p.Glu96Gly
  • LRG_431t1:c.332A>G
  • LRG_431:g.17408A>G
  • LRG_431p1:p.Glu111Gly
  • NC_000001.10:g.201334398T>C
  • NM_001001430.1:c.302A>G
Protein change:
E100G
Molecular consequence:
  • NM_001276346.2:c.291+340A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000364.4:c.332A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001001430.3:c.302A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001001431.3:c.302A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001001432.3:c.287A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276345.2:c.332A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276347.2:c.302A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406723.1:c.332A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406724.1:c.302A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406725.1:c.299A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406726.1:c.302A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406727.1:c.302A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406728.1:c.287A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiomyopathy, familial restrictive, 3
Identifiers:
MONDO: MONDO:0012900; MedGen: C2676271; Orphanet: 75249; OMIM: 612422

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004181469Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Apr 11, 2023) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Genome-Nilou Lab, SCV004181469.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024