NM_001123385.2(BCOR):c.3187_3188dup (p.Val1065fs) AND Oculofaciocardiodental syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 3, 2023
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:: RCV003509420.2

Allele description [Variation Report for NM_001123385.2(BCOR):c.3187_3188dup (p.Val1065fs)]

NM_001123385.2(BCOR):c.3187_3188dup (p.Val1065fs)

Gene:

BCOR:BCL6 corepressor [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

Xp11.4

Genomic location:

Preferred name:

NM_001123385.2(BCOR):c.3187_3188dup (p.Val1065fs)

HGVS:

NC_000023.11:g.40071024_40071025dup
NG_008880.1:g.111306_111307dup
NM_001123383.1:c.3187_3188dup
NM_001123384.2:c.3133_3134dup
NM_001123385.2:c.3187_3188dupMANE SELECT
NM_017745.6:c.3187_3188dup
NP_001116855.1:p.Val1065fs
NP_001116856.1:p.Val1047fs
NP_001116857.1:p.Val1065Argfs
NP_001116857.1:p.Val1065fs
NP_060215.4:p.Val1065fs
LRG_627t1:c.3187_3188dup
LRG_627t2:c.3186_3187dup
LRG_627:g.111306_111307dup
LRG_627p1:p.Val1065fs
LRG_627p2:p.Val1065Argfs
NC_000023.10:g.39930275_39930276insTT
NC_000023.10:g.39930277_39930278dup
NM_001123385.1:c.3186_3187dup

Protein change:

V1047fs

Molecular consequence:

NM_001123383.1:c.3187_3188dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001123384.2:c.3133_3134dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001123385.2:c.3187_3188dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_017745.6:c.3187_3188dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Oculofaciocardiodental syndrome (MCOPS2)
Synonyms:: Microphthalmia cataracts radiculomegaly and septal heart defects
Identifiers:: MONDO: MONDO:0010261; MedGen: C1846265; OMIM: 300166

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004313280	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Aug 3, 2023)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 15004558, 19367324, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004313280

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Aug 3, 2023)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR.

Ng D, Thakker N, Corcoran CM, Donnai D, Perveen R, Schneider A, Hadley DW, Tifft C, Zhang L, Wilkie AO, van der Smagt JJ, Gorlin RJ, Burgess SM, Bardwell VJ, Black GC, Biesecker LG.

Nat Genet. 2004 Apr;36(4):411-6. Epub 2004 Mar 7.

PubMed [citation]

PMID:: 15004558

BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects.

Hilton E, Johnston J, Whalen S, Okamoto N, Hatsukawa Y, Nishio J, Kohara H, Hirano Y, Mizuno S, Torii C, Kosaki K, Manouvrier S, Boute O, Perveen R, Law C, Moore A, Fitzpatrick D, Lemke J, Fellmann F, Debray FG, Dastot-Le-Moal F, Gerard M, et al.

Eur J Hum Genet. 2009 Oct;17(10):1325-35. doi: 10.1038/ejhg.2009.52. Epub 2009 Apr 15.

PubMed [citation]

PMID:: 19367324
PMCID:: PMC2826145

See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004313280.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with BCOR-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Val1065Argfs*49) in the BCOR gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BCOR are known to be pathogenic (PMID: 15004558, 19367324).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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