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NM_000261.1(MYOC):c.855G>T (p.Thr285=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Sep 19, 2018)
Last evaluated:
Jun 14, 2016
Accession:
VCV000196241.1
Variation ID:
196241
Description:
single nucleotide variant
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NM_000261.1(MYOC):c.855G>T (p.Thr285=)

Allele ID
193402
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q24.3
Genomic location
1: 171636585 (GRCh38) GRCh38 UCSC
1: 171605725 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.11:g.171636585C>A
NC_000001.10:g.171605725C>A
NM_000261.1:c.855G>T NP_000252.1:p.Thr285= synonymous
NG_008859.1:g.21049G>T
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
0.00160 (A)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00433
1000 Genomes Project 0.00160
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00223
Exome Aggregation Consortium (ExAC) 0.00388
The Genome Aggregation Database (gnomAD), exomes 0.00392
Trans-Omics for Precision Medicine (TOPMed) 0.00183
Links
dbSNP: rs146606638
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Nov 6, 2014 RCV000177024.1
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000283082.1
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000321707.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MYOC - - GRCh38
GRCh37
50 71

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Primary Open Angle Glaucoma
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000351290.2
Submitted: (Oct 18, 2016)
Evidence details
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Glaucoma
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000351289.2
Submitted: (Oct 18, 2016)
Evidence details
Benign
(Nov 06, 2014)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics
Accession: SCV000228834.5
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/em...

Citations for this variant

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

Record last updated Jun 17, 2019