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NM_000257.4(MYH7):c.3551A>T (p.Gln1184Leu) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 26, 2017
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:
RCV000766447.1

Allele description [Variation Report for NM_000257.4(MYH7):c.3551A>T (p.Gln1184Leu)]

NM_000257.4(MYH7):c.3551A>T (p.Gln1184Leu)

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.3551A>T (p.Gln1184Leu)
Other names:
p.Q1184L:CAG>CTG
HGVS:
  • NC_000014.9:g.23420020T>A
  • NG_007884.1:g.20642A>T
  • NM_000257.4:c.3551A>TMANE SELECT
  • NP_000248.2:p.Gln1184Leu
  • LRG_384t1:c.3551A>T
  • LRG_384:g.20642A>T
  • NC_000014.8:g.23889229T>A
  • NM_000257.2:c.3551A>T
  • NM_000257.3:c.3551A>T
Protein change:
Q1184L
Links:
dbSNP: rs546586969
NCBI 1000 Genomes Browser:
rs546586969
Molecular consequence:
  • NM_000257.4:c.3551A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000208545GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(May 26, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000208545.10

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

A variant of uncertain significance has been identified in the MYH7 gene. The Q1184L variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The Q1184L variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species and in silico analysis predicts this variant is probably damaging to the protein structure/function. However, this variant lacks observation in a significant number of affected individuals, segregation data, and functional evidence, which would further clarify its pathogenicity.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024