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NM_020433.5(JPH2):c.421T>C (p.Tyr141His) AND Hypertrophic cardiomyopathy 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 29, 2020
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:
RCV001256951.2

Allele description [Variation Report for NM_020433.5(JPH2):c.421T>C (p.Tyr141His)]

NM_020433.5(JPH2):c.421T>C (p.Tyr141His)

Gene:
JPH2:junctophilin 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
20q13.12
Genomic location:
Preferred name:
NM_020433.5(JPH2):c.421T>C (p.Tyr141His)
HGVS:
  • NC_000020.11:g.44160366A>G
  • NG_031867.1:g.32213T>C
  • NM_020433.5:c.421T>CMANE SELECT
  • NP_065166.2:p.Tyr141His
  • NP_065166.2:p.Tyr141His
  • LRG_394t1:c.421T>C
  • LRG_394:g.32213T>C
  • LRG_394p1:p.Tyr141His
  • NC_000020.10:g.42789006A>G
  • NM_020433.4:c.421T>C
  • Q9BR39:p.Tyr141His
Protein change:
Y141H; TYR141HIS
Links:
UniProtKB: Q9BR39#VAR_065472; OMIM: 605267.0002; dbSNP: rs387906897
NCBI 1000 Genomes Browser:
rs387906897
Molecular consequence:
  • NM_020433.5:c.421T>C - missense variant - [Sequence Ontology: SO:0001583]

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001433482Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Feb 29, 2020) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot 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 Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute, SCV001433482.1

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

Last Updated: Nov 10, 2024