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NM_000261.2(MYOC):c.855G>T (p.Thr285=) AND not specified

Germline classification:
Benign (1 submission)
Last evaluated:
Nov 6, 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:
RCV000177024.12

Allele description [Variation Report for NM_000261.2(MYOC):c.855G>T (p.Thr285=)]

NM_000261.2(MYOC):c.855G>T (p.Thr285=)

Gene:
MYOC:myocilin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q24.3
Genomic location:
Preferred name:
NM_000261.2(MYOC):c.855G>T (p.Thr285=)
Other names:
NM_000261.2(MYOC):c.855G>T; p.Thr285=
HGVS:
  • NC_000001.11:g.171636585C>A
  • NG_008859.1:g.21049G>T
  • NM_000261.2:c.855G>TMANE SELECT
  • NP_000252.1:p.Thr285=
  • NC_000001.10:g.171605725C>A
  • NC_000001.10:g.171605725C>A
  • NM_000261.1:c.855G>T
Links:
dbSNP: rs146606638
NCBI 1000 Genomes Browser:
rs146606638
Molecular consequence:
  • NM_000261.2:c.855G>T - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000228834Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)		Benign
(Nov 6, 2014) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000228834.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Nov 10, 2024