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NM_000257.4(MYH7):c.4283T>C (p.Leu1428Ser) AND Restrictive cardiomyopathy

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Nov 23, 2015
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:
RCV000208499.1

Allele description [Variation Report for NM_000257.4(MYH7):c.4283T>C (p.Leu1428Ser)]

NM_000257.4(MYH7):c.4283T>C (p.Leu1428Ser)

Genes:
MYH7:myosin heavy chain 7 [Gene - OMIM - HGNC]
MHRT:myosin heavy chain associated RNA transcript [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q11.2
Genomic location:
Preferred name:
NM_000257.4(MYH7):c.4283T>C (p.Leu1428Ser)
Other names:
p.L1428S:TTG>TCG; NM_000257.4(MYH7):c.4283T>C
HGVS:
  • NC_000014.9:g.23417573A>G
  • NG_007884.1:g.23089T>C
  • NM_000257.4:c.4283T>CMANE SELECT
  • NP_000248.2:p.Leu1428Ser
  • LRG_384t1:c.4283T>C
  • LRG_384:g.23089T>C
  • NC_000014.8:g.23886782A>G
  • NM_000257.2:c.4283T>C
  • NM_000257.3:c.4283T>C
  • NR_126491.1:n.854A>G
Protein change:
L1428S
Links:
dbSNP: rs727503244
NCBI 1000 Genomes Browser:
rs727503244
Molecular consequence:
  • NM_000257.4:c.4283T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_126491.1:n.854A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

Condition(s)

Name:
Restrictive cardiomyopathy
Identifiers:
MONDO: MONDO:0005201; MeSH: D002313; MedGen: C0007196; Human Phenotype Ontology: HP:0001723

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000264091Blueprint Genetics
criteria provided, single submitter

(Variant Classification)		Likely pathogenic
(Nov 23, 2015) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Myocardial fibrosis as an early manifestation of hypertrophic cardiomyopathy.

Ho CY, López B, Coelho-Filho OR, Lakdawala NK, Cirino AL, Jarolim P, Kwong R, González A, Colan SD, Seidman JG, Díez J, Seidman CE.

N Engl J Med. 2010 Aug 5;363(6):552-63. doi: 10.1056/NEJMoa1002659.

PubMed [citation]
PMID:
20818890
PMCID:
PMC3049917

Details of each submission

From Blueprint Genetics, SCV000264091.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 26, 2024