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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000234915	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Uncertain significance (Sep 23, 2014)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000234915

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Uncertain significance
(Sep 23, 2014)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000234915.9

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not 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).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 1, 2024

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