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NM_002474.3(MYH11):c.5755C>T (p.Arg1919Cys) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 23, 2014
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:
RCV000182565.1

Allele description [Variation Report for NM_002474.3(MYH11):c.5755C>T (p.Arg1919Cys)]

NM_002474.3(MYH11):c.5755C>T (p.Arg1919Cys)

Genes:
MYH11:myosin heavy chain 11 [Gene - OMIM - HGNC]
NDE1:nudE neurodevelopment protein 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p13.11
Genomic location:
Preferred name:
NM_002474.3(MYH11):c.5755C>T (p.Arg1919Cys)
Other names:
p.R1919C:CGC>TGC
HGVS:
  • NC_000016.10:g.15714940G>A
  • NG_009299.1:g.147091C>T
  • NG_021210.1:g.76674G>A
  • NM_001040113.2:c.5776C>T
  • NM_001040114.2:c.5776C>T
  • NM_001143979.2:c.948-9251G>A
  • NM_002474.3:c.5755C>TMANE SELECT
  • NM_017668.3:c.948-9251G>AMANE SELECT
  • NM_022844.3:c.5755C>T
  • NP_001035202.1:p.Arg1926Cys
  • NP_001035203.1:p.Arg1926Cys
  • NP_002465.1:p.Arg1919Cys
  • NP_074035.1:p.Arg1919Cys
  • LRG_1401t1:c.5755C>T
  • LRG_1401t2:c.5776C>T
  • LRG_1401:g.147091C>T
  • LRG_1401p1:p.Arg1919Cys
  • LRG_1401p2:p.Arg1926Cys
  • NC_000016.9:g.15808797G>A
  • NM_002474.2:c.5755C>T
Protein change:
R1919C
Links:
dbSNP: rs750085824
NCBI 1000 Genomes Browser:
rs750085824
Molecular consequence:
  • NM_001143979.2:c.948-9251G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_017668.3:c.948-9251G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001040113.2:c.5776C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001040114.2:c.5776C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002474.3:c.5755C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_022844.3:c.5755C>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
SCV000234915GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Sep 23, 2014) 		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, SCV000234915.9

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

Description

p.Arg1919Cys (CGC>TGC): c.5755 C>T in exon 40 of the MYH11 gene (NM_002474.2). A variant of unknown significance has been identified in the MYH11 gene. The R1919C variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The R1919C variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The R1919C 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. Additionally, 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, missense mutations in nearby residues have not been reported, indicating this region of the protein may be tolerant of change. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in TAAD panel(s).

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

Last Updated: Sep 1, 2024