U.S. flag

An official website of the United States government

NM_001123385.2(BCOR):c.3346C>T (p.Pro1116Ser) AND Oculofaciocardiodental syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 22, 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:
RCV002623993.2

Allele description

NM_001123385.2(BCOR):c.3346C>T (p.Pro1116Ser)

Gene:
BCOR:BCL6 corepressor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp11.4
Genomic location:
Preferred name:
NM_001123385.2(BCOR):c.3346C>T (p.Pro1116Ser)
HGVS:
  • NC_000023.11:g.40064492G>A
  • NG_008880.1:g.117838C>T
  • NM_001123383.1:c.3346C>T
  • NM_001123384.2:c.3292C>T
  • NM_001123385.2:c.3346C>TMANE SELECT
  • NM_017745.6:c.3346C>T
  • NP_001116855.1:p.Pro1116Ser
  • NP_001116856.1:p.Pro1098Ser
  • NP_001116857.1:p.Pro1116Ser
  • NP_001116857.1:p.Pro1116Ser
  • NP_060215.4:p.Pro1116Ser
  • LRG_627t1:c.3346C>T
  • LRG_627t2:c.3346C>T
  • LRG_627:g.117838C>T
  • LRG_627p1:p.Pro1116Ser
  • LRG_627p2:p.Pro1116Ser
  • NC_000023.10:g.39923745G>A
  • NM_001123385.1:c.3346C>T
Protein change:
P1098S
Molecular consequence:
  • NM_001123383.1:c.3346C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001123384.2:c.3292C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001123385.2:c.3346C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_017745.6:c.3346C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003512763Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Jun 22, 2023) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV003512763.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This variant is present in population databases (rs140923855, gnomAD 0.02%). This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1116 of the BCOR protein (p.Pro1116Ser). This variant has not been reported in the literature in individuals affected with BCOR-related conditions. ClinVar contains an entry for this variant (Variation ID: 2193564). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: Feb 20, 2024