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NM_002474.3(MYH11):c.4016G>A (p.Arg1339His)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Mar 28, 2019)
Last evaluated:
Oct 31, 2018
Accession:
VCV000201071.3
Variation ID:
201071
Description:
single nucleotide variant
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NM_002474.3(MYH11):c.4016G>A (p.Arg1339His)

Allele ID
197875
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16p13.11
Genomic location
16: 15724747 (GRCh38) GRCh38 UCSC
16: 15818604 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.15724747C>T
NC_000016.9:g.15818604C>T
NM_001040113.2:c.4037G>A NP_001035202.1:p.Arg1346His missense
... more HGVS
Protein change
R1339H
Other names
p.R1339H:CGC>CAC
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00004
The Genome Aggregation Database (gnomAD), exomes 0.00002
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Trans-Omics for Precision Medicine (TOPMed) 0.00003
The Genome Aggregation Database (gnomAD) 0.00006
Links
ClinGen: CA306555
dbSNP: rs374271463
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 2 criteria provided, multiple submitters, no conflicts Oct 31, 2018 RCV000699160.3
Uncertain significance 1 criteria provided, single submitter Oct 31, 2013 RCV000182515.2
Uncertain significance 1 criteria provided, single submitter Jun 14, 2016 RCV000288562.1
Uncertain significance 1 criteria provided, single submitter Jun 14, 2016 RCV000382967.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MYH11 No evidence available No evidence available GRCh38
GRCh38
GRCh37
597 1352
NDE1 - - GRCh38
GRCh38
GRCh37
97 848

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Oct 31, 2013)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000234861.10
Submitted: (Jan 29, 2019)
Evidence details
Comment:
p.Arg1339His (R1339H) CGC>CAC: c.4016 G>A in exon 30 of the MYH11 gene (NM_002474.2).The Arg1339His variant in the MYH11 gene has not been reported as a ... (more)
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Thoracic Aortic Aneurysms and Aortic Dissections
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000395285.2
Submitted: (Oct 18, 2016)
Evidence details
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Lissencephaly, Recessive
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000395286.2
Submitted: (Oct 18, 2016)
Evidence details
Uncertain significance
(Oct 31, 2018)
criteria provided, single submitter
Method: clinical testing
Aortic aneurysm, familial thoracic 4
Allele origin: unknown
Fulgent Genetics,Fulgent Genetics
Accession: SCV000896506.1
Submitted: (Nov 14, 2018)
Evidence details
Publications
PubMed (1)
DOI: 10.1038/gim.2015.30
Uncertain significance
(Jul 03, 2018)
criteria provided, single submitter
Method: clinical testing
Aortic aneurysm, familial thoracic 4
Allele origin: germline
Invitae
Accession: SCV000827858.2
Submitted: (Mar 28, 2019)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces arginine with histidine at codon 1346 of the MYH11 protein (p.Arg1346His). The arginine residue is highly conserved and there is a ... (more)

Citations for this variant

Title Author Journal Year Link
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Richards S Genetics in medicine : official journal of the American College of Medical Genetics 2015 PMID: 25741868

Record last updated Oct 27, 2019