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NM_007374.3(SIX6):c.614T>G (p.Leu205Arg) AND Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome

Germline classification:
Likely benign (1 submission)
Last evaluated:
Oct 21, 2015
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:
RCV000625468.2

Allele description [Variation Report for NM_007374.3(SIX6):c.614T>G (p.Leu205Arg)]

NM_007374.3(SIX6):c.614T>G (p.Leu205Arg)

Genes:
SIX6:SIX homeobox 6 [Gene - OMIM - HGNC]
C14orf39:chromosome 14 open reading frame 39 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q23.1
Genomic location:
Preferred name:
NM_007374.3(SIX6):c.614T>G (p.Leu205Arg)
HGVS:
  • NC_000014.9:g.60511125T>G
  • NG_008203.1:g.6906T>G
  • NM_007374.3:c.614T>GMANE SELECT
  • NP_031400.2:p.Leu205Arg
  • NC_000014.8:g.60977843T>G
  • NM_007374.2:c.614T>G
Protein change:
L205R
Links:
dbSNP: rs45549246
NCBI 1000 Genomes Browser:
rs45549246
Molecular consequence:
  • NM_007374.3:c.614T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome (ODRMD)
Synonyms:
OPTIC DISC ANOMALIES WITH RETINAL AND/OR MACULAR DYSTROPHY
Identifiers:
MONDO: MONDO:0008927; MedGen: C4225424; Orphanet: 435930; OMIM: 212550

Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000745504Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus
criteria provided, single submitter

(ACGS Guidelines, 2013)		Likely benign
(Oct 21, 2015) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV000745504.1

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

Last Updated: Oct 8, 2024