NM_000275.3(OCA2):c.619_636del (p.Leu207_Leu212del) AND not provided

Clinical significance:Pathogenic/Likely pathogenic (Last evaluated: Jul 1, 2018)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000413670.4

Allele description [Variation Report for NM_000275.3(OCA2):c.619_636del (p.Leu207_Leu212del)]

NM_000275.3(OCA2):c.619_636del (p.Leu207_Leu212del)

Gene:
OCA2:OCA2 melanosomal transmembrane protein [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
15q13.1
Genomic location:
Preferred name:
NM_000275.3(OCA2):c.619_636del (p.Leu207_Leu212del)
HGVS:
  • NC_000015.10:g.28022515_28022532del
  • NG_009846.1:g.81785_81802del
  • NM_000275.3:c.619_636delMANE SELECT
  • NM_001300984.2:c.619_636del
  • NP_000266.2:p.Leu207_Leu212del
  • NP_001287913.1:p.Leu207_Leu212del
  • NC_000015.9:g.28267661_28267678del
  • NM_000275.2:c.619_636del18
  • NM_000275.2:c.619_636delTTGGCCTTATCACCGCTG
Links:
dbSNP: rs767489236
NCBI 1000 Genomes Browser:
rs767489236
Molecular consequence:
  • NM_000275.3:c.619_636del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001300984.2:c.619_636del - inframe_deletion - [Sequence Ontology: SO:0001822]
Observations:
2

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000491126GeneDxcriteria provided, single submitter
Pathogenic
(May 2, 2018)
germlineclinical testing

Citation Link,

SCV000703176EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Likely pathogenic
(Dec 16, 2016)
germlineclinical testing

Citation Link,

SCV001250103CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Pathogenic
(Jul 1, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000491126.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.619_636del18 variant in the OCA2 gene has been reported previously in an individual with oculocutaneous albinism who was compound heterozygous for the c.619_636del18 variant and another variant. (King et al., 2003). The c.619_636del18 variant is observed in 20/23,972 (0.08%) alleles from individuals of African background in large population cohorts and no individuals were reported to be homozygous (Lek et al., 2016). The c.619_636del18 variant causes an in-frame deletion of codons Leucine 207 to Leucine 212, denoted p.Leu207_Leu212del. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. We interpret c.619_636del18 as a pathogenic variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000703176.2

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

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001250103.5

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

Last Updated: Jul 10, 2021

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