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NM_053025.4(MYLK):c.1007C>T (p.Pro336Leu)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
7 (Most recent: Oct 10, 2018)
Last evaluated:
Jun 1, 2018
Accession:
VCV000193752.2
Variation ID:
193752
Description:
single nucleotide variant
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NM_053025.4(MYLK):c.1007C>T (p.Pro336Leu)

Allele ID
190915
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3q21.1
Genomic location
3: 123733989 (GRCh38) GRCh38 UCSC
3: 123452836 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.123452836G>A
NC_000003.12:g.123733989G>A
NM_001321309.2:c.479C>T NP_001308238.1:p.Pro160Leu missense
... more HGVS
Protein change
P336L
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
0.00140 (A)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00089
Exome Aggregation Consortium (ExAC) 0.00167
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00108
The Genome Aggregation Database (gnomAD), exomes 0.00162
1000 Genomes Project 0.00140
Trans-Omics for Precision Medicine (TOPMed) 0.00129
Links
UniProtKB: Q15746#VAR_057107
dbSNP: rs35912339
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Nov 2, 2017 RCV000173911.4
Benign 1 criteria provided, single submitter Jan 10, 2018 RCV000231828.4
Likely benign 1 criteria provided, single submitter Mar 21, 2018 RCV000241731.3
Likely benign 1 criteria provided, single submitter Jun 1, 2018 RCV000680576.1
Likely benign 1 criteria provided, single submitter May 4, 2018 RCV000757536.1
Likely benign 1 criteria provided, single submitter Jul 22, 2016 RCV000769342.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MYLK Little evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
558 684

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Nov 02, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000530487.4
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at ... (more)
Benign
(Jan 10, 2018)
criteria provided, single submitter
Method: clinical testing
Aortic aneurysm, familial thoracic 7
Allele origin: germline
Invitae
Accession: SCV000291185.4
Submitted: (Apr 02, 2018)
Evidence details
Likely benign
(Jun 01, 2018)
criteria provided, single submitter
Method: clinical testing
Connective tissue disorder
Allele origin: germline
Center for Human Genetics, Inc
Accession: SCV000807991.1
Submitted: (Jul 17, 2018)
Evidence details
Likely benign
(Mar 21, 2018)
criteria provided, single submitter
Method: clinical testing
cardiovascular phenotype
Allele origin: germline
Ambry Genetics
Accession: SCV000319547.4
Submitted: (Jul 30, 2018)
Evidence details
Comment:
Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification,In silico models in agreement (benign)
Benign
(May 21, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics
Accession: SCV000225087.5
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/em...
Likely benign
(May 04, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV000885796.1
Submitted: (Oct 10, 2018)
Evidence details
Comment:
The c.1007C>T; p.Pro336Leu variant (rs35912339, ClinVar variant ID 193752), to our knowledge, is not reported in the medical literature, gene specific variation databases, nor has ... (more)
Likely benign
(Jul 22, 2016)
criteria provided, single submitter
Method: clinical testing
Thoracic aortic aneurysm and aortic dissection
Allele origin: germline
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario
Study: Canadian Open Genetics Repository
Accession: SCV000900725.1
Submitted: (Apr 30, 2018)
Evidence details

Citations for this variant

Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=MYLK - - - -

Record last updated Sep 10, 2019