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NM_001276345.2(TNNT2):c.3G>A (p.Met1Ile) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 18, 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:
RCV002529034.2

Allele description [Variation Report for NM_001276345.2(TNNT2):c.3G>A (p.Met1Ile)]

NM_001276345.2(TNNT2):c.3G>A (p.Met1Ile)

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.3G>A (p.Met1Ile)
HGVS:
  • NC_000001.11:g.201373252C>T
  • NG_007556.1:g.9426G>A
  • NM_000364.4:c.3G>A
  • NM_001001430.3:c.3G>A
  • NM_001001431.3:c.3G>A
  • NM_001001432.3:c.3G>A
  • NM_001276345.2:c.3G>AMANE SELECT
  • NM_001276346.2:c.3G>A
  • NM_001276347.2:c.3G>A
  • NP_000355.2:p.Met1Ile
  • NP_001001430.1:p.Met1Ile
  • NP_001001431.1:p.Met1Ile
  • NP_001001432.1:p.Met1Ile
  • NP_001263274.1:p.Met1Ile
  • NP_001263275.1:p.Met1Ile
  • NP_001263276.1:p.Met1Ile
  • LRG_431t1:c.3G>A
  • LRG_431:g.9426G>A
  • LRG_431p1:p.Met1Ile
  • NC_000001.10:g.201342380C>T
  • NM_000364.3:c.3G>A
  • NM_001001430.1:c.3G>A
  • NM_001001430.2:c.3G>A
  • NM_001001430.3:c.3G>A
  • p.Met1?
Protein change:
M1I
Links:
dbSNP: rs1289914935
NCBI 1000 Genomes Browser:
rs1289914935
Molecular consequence:
  • NM_000364.4:c.3G>A - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_001001430.3:c.3G>A - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_001001431.3:c.3G>A - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_001001432.3:c.3G>A - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_001276345.2:c.3G>A - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_001276346.2:c.3G>A - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_001276347.2:c.3G>A - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_000364.4:c.3G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001001430.3:c.3G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001001431.3:c.3G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001001432.3:c.3G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276345.2:c.3G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276346.2:c.3G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276347.2:c.3G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hypertrophic cardiomyopathy 2
Synonyms:
Familial hypertrophic cardiomyopathy 2; TNNT2-Related Familial Hypertrophic Cardiomyopathy
Identifiers:
MONDO: MONDO:0007266; MedGen: C1861864; OMIM: 115195
Name:
Dilated cardiomyopathy 1D
Synonyms:
Left ventricular noncompaction 6
Identifiers:
MONDO: MONDO:0011095; MedGen: C1832243; Orphanet: 154; Orphanet: 54260; OMIM: 601494
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
SCV003279158Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Jan 18, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV003279158.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This variant has not been reported in the literature in individuals affected with TNNT2-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 487631). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change affects the initiator methionine of the TNNT2 mRNA. The next in-frame methionine is located at codon 60.

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

Last Updated: May 7, 2024