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NM_000257.4(MYH7):c.3134G>T (p.Arg1045Leu) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Oct 12, 2022
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:
RCV001703459.11

Allele description [Variation Report for NM_000257.4(MYH7):c.3134G>T (p.Arg1045Leu)]

NM_000257.4(MYH7):c.3134G>T (p.Arg1045Leu)

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.3134G>T (p.Arg1045Leu)
Other names:
NM_000257.4(MYH7):c.3134G>T
HGVS:
  • NC_000014.9:g.23422291C>A
  • NG_007884.1:g.18371G>T
  • NM_000257.4:c.3134G>TMANE SELECT
  • NP_000248.2:p.Arg1045Leu
  • LRG_384t1:c.3134G>T
  • LRG_384:g.18371G>T
  • NC_000014.8:g.23891500C>A
  • NM_000257.2:c.3134G>T
  • NM_000257.3:c.3134G>T
  • c.3134G>T
Protein change:
R1045L
Links:
dbSNP: rs397516178
NCBI 1000 Genomes Browser:
rs397516178
Molecular consequence:
  • NM_000257.4:c.3134G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000208523GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Likely pathogenic
(Oct 12, 2022)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000208523.6

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

Description

Reported in several individuals with HCM (Alfares et al., 2015; Cann et al., 2016; Walsh et al., 2015), and reported as p.(R1045L) (c.3134G>T) in another individual with HCM (de Marvao et al., 2021); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 25611685, 27532257, 31447099, 27247418, 34542152, 34636345, 34503678, 27000522)

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

Last Updated: Jul 23, 2024