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NM_002474.3(MYH11):c.4242T>G (p.Ala1414=) AND Cardiovascular phenotype

Germline classification:
Benign (1 submission)
Last evaluated:
Nov 19, 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:
RCV000617695.10

Allele description [Variation Report for NM_002474.3(MYH11):c.4242T>G (p.Ala1414=)]

NM_002474.3(MYH11):c.4242T>G (p.Ala1414=)

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.4242T>G (p.Ala1414=)
Other names:
p.A1414A:GCT>GCG
HGVS:
  • NC_000016.10:g.15724284A>C
  • NG_009299.1:g.137747T>G
  • NG_021210.1:g.86018A>C
  • NM_001040113.2:c.4263T>G
  • NM_001040114.2:c.4263T>G
  • NM_001143979.2:c.*33A>C
  • NM_002474.3:c.4242T>GMANE SELECT
  • NM_017668.3:c.*33A>CMANE SELECT
  • NM_022844.3:c.4242T>G
  • NP_001035202.1:p.Ala1421=
  • NP_001035203.1:p.Ala1421=
  • NP_002465.1:p.Ala1414=
  • NP_074035.1:p.Ala1414=
  • LRG_1401t1:c.4242T>G
  • LRG_1401t2:c.4263T>G
  • LRG_1401:g.137747T>G
  • LRG_1401p1:p.Ala1414=
  • LRG_1401p2:p.Ala1421=
  • NC_000016.9:g.15818141A>C
  • NM_001040113.1:c.4263T>G
  • NM_001143979.1:c.*33A>C
  • NM_002474.2:c.4242T>G
  • p.Ala1414Ala
  • p.Ala1421Ala
Links:
dbSNP: rs2075511
NCBI 1000 Genomes Browser:
rs2075511
Molecular consequence:
  • NM_001143979.2:c.*33A>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_017668.3:c.*33A>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001040113.2:c.4263T>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001040114.2:c.4263T>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_002474.3:c.4242T>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_022844.3:c.4242T>G - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
1

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000738268Ambry Genetics
criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (10/2015))		Benign
(Nov 19, 2014) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000738268.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Nov 10, 2024