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NM_000257.4(MYH7):c.732+2T>G AND Left ventricular noncompaction

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 5, 2015
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000678820.1

Allele description [Variation Report for NM_000257.4(MYH7):c.732+2T>G]

NM_000257.4(MYH7):c.732+2T>G

Gene:
MYH7:myosin heavy chain 7 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q11.2
Genomic location:
Preferred name:
NM_000257.4(MYH7):c.732+2T>G
HGVS:
  • NC_000014.9:g.23431583A>C
  • NG_007884.1:g.9079T>G
  • NM_000257.4:c.732+2T>GMANE SELECT
  • NM_001407004.1:c.732+2T>G
  • LRG_384t1:c.732+2T>G
  • LRG_384:g.9079T>G
  • NC_000014.8:g.23900792A>C
  • NM_000257.2:c.732+2T>G
  • NM_000257.3:c.732+2T>G
Links:
dbSNP: rs1555338658
NCBI 1000 Genomes Browser:
rs1555338658
Molecular consequence:
  • NM_000257.4:c.732+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407004.1:c.732+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Left ventricular noncompaction
Identifiers:
MONDO: MONDO:0018901; MedGen: C1960469; OMIM: PS604169; Human Phenotype Ontology: HP:0030682

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000805006Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital
no assertion criteria provided
Likely pathogenic
(May 5, 2015)
germlineclinical testing

Summary from all submissions

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

Details of each submission

From Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital, SCV000805006.1

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

Last Updated: Sep 29, 2024