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NM_000257.4(MYH7):c.2936C>G (p.Thr979Arg) AND Left ventricular noncompaction cardiomyopathy

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 14, 2016
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:
RCV000299716.12

Allele description [Variation Report for NM_000257.4(MYH7):c.2936C>G (p.Thr979Arg)]

NM_000257.4(MYH7):c.2936C>G (p.Thr979Arg)

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.2936C>G (p.Thr979Arg)
HGVS:
  • NC_000014.9:g.23423710G>C
  • NG_007884.1:g.16952C>G
  • NM_000257.4:c.2936C>GMANE SELECT
  • NP_000248.2:p.Thr979Arg
  • LRG_384t1:c.2936C>G
  • LRG_384:g.16952C>G
  • NC_000014.8:g.23892919G>C
  • NM_000257.2:c.2936C>G
Protein change:
T979R
Links:
dbSNP: rs886050421
NCBI 1000 Genomes Browser:
rs886050421
Molecular consequence:
  • NM_000257.4:c.2936C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Left ventricular noncompaction cardiomyopathy
Identifiers:
MedGen: C4021133; Human Phenotype Ontology: HP:0011664

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000386114Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification 20161018)		Uncertain significance
(Jun 14, 2016) 		germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

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Summary from all submissions

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

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000386114.2

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

Last Updated: Oct 26, 2024