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NM_000363.5(TNNI3):c.12-7del AND Hypertrophic cardiomyopathy 1

Germline classification:
Benign (1 submission)
Last evaluated:
May 28, 2019
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:
RCV000991061.1

Allele description [Variation Report for NM_000363.5(TNNI3):c.12-7del]

NM_000363.5(TNNI3):c.12-7del

Gene:
TNNI3:troponin I3, cardiac type [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
19q13.42
Genomic location:
Preferred name:
NM_000363.5(TNNI3):c.12-7del
HGVS:
  • NC_000019.10:g.55157316del
  • NC_000019.9:g.55668683del
  • NG_007866.2:g.5418del
  • NG_032759.1:g.14408del
  • NM_000363.5:c.12-7delMANE SELECT
  • LRG_432t1:c.12-7del
  • LRG_432:g.5418del
  • NC_000019.9:g.55668683del
  • NC_000019.9:g.55668683delG
  • NC_000019.9:g.55668684del
  • NM_000363.4:c.12-7del
  • NM_000363.4:c.12-7delC
  • c.12-7delC
Links:
dbSNP: rs370714315
NCBI 1000 Genomes Browser:
rs370714315
Molecular consequence:
  • NM_000363.5:c.12-7del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Hypertrophic cardiomyopathy 1
Synonyms:
Familial hypertrophic cardiomyopathy 1; MYH7-Related Familial Hypertrophic Cardiomyopathy
Identifiers:
MONDO: MONDO:0008647; MedGen: C3495498; OMIM: 192600

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001142166Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2017)
Benign
(May 28, 2019)
unknownclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Mendelics, SCV001142166.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 5, 2024