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NM_001276345.2(TNNT2):c.422G>C (p.Arg141Pro) AND Hypertrophic cardiomyopathy 2

Germline classification:
Likely pathogenic (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:
RCV003450698.1

Allele description [Variation Report for NM_001276345.2(TNNT2):c.422G>C (p.Arg141Pro)]

NM_001276345.2(TNNT2):c.422G>C (p.Arg141Pro)

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.422G>C (p.Arg141Pro)
HGVS:
  • NC_000001.11:g.201364365C>G
  • NG_007556.1:g.18313G>C
  • NM_000364.4:c.422G>C
  • NM_001001430.3:c.392G>C
  • NM_001001431.3:c.392G>C
  • NM_001001432.3:c.377G>C
  • NM_001276345.2:c.422G>CMANE SELECT
  • NM_001276346.2:c.302G>C
  • NM_001276347.2:c.392G>C
  • NP_000355.2:p.Arg141Pro
  • NP_001001430.1:p.Arg131Pro
  • NP_001001431.1:p.Arg131Pro
  • NP_001001432.1:p.Arg126Pro
  • NP_001263274.1:p.Arg141Pro
  • NP_001263275.1:p.Arg101Pro
  • NP_001263276.1:p.Arg131Pro
  • LRG_431t1:c.422G>C
  • LRG_431:g.18313G>C
  • LRG_431p1:p.Arg141Pro
  • NC_000001.10:g.201333493C>G
  • NM_001001430.1:c.392G>C
  • NM_001001430.2:c.392G>C
  • c.392G>C
Protein change:
R101P
Links:
dbSNP: rs397516464
NCBI 1000 Genomes Browser:
rs397516464
Molecular consequence:
  • NM_000364.4:c.422G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001001430.3:c.392G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001001431.3:c.392G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001001432.3:c.377G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276345.2:c.422G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276346.2:c.302G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276347.2:c.392G>C - 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

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004181408Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(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, SCV004181408.1

#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: Apr 6, 2024