NM_001123385.2(BCOR):c.4292C>A (p.Ser1431Tyr) AND Abnormal brain morphology

Germline classification:: Likely pathogenic (1 submission)
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:: RCV000454264.1

Allele description [Variation Report for NM_001123385.2(BCOR):c.4292C>A (p.Ser1431Tyr)]

NM_001123385.2(BCOR):c.4292C>A (p.Ser1431Tyr)

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.4292C>A (p.Ser1431Tyr)

HGVS:

NC_000023.11:g.40062275G>T
NG_008880.1:g.120055C>A
NM_001123383.1:c.4190C>A
NM_001123384.2:c.4136C>A
NM_001123385.2:c.4292C>AMANE SELECT
NM_017745.6:c.4190C>A
NP_001116855.1:p.Ser1397Tyr
NP_001116856.1:p.Ser1379Tyr
NP_001116857.1:p.Ser1431Tyr
NP_060215.4:p.Ser1397Tyr
LRG_627t1:c.4190C>A
LRG_627:g.120055C>A
LRG_627p1:p.Ser1397Tyr
NC_000023.10:g.39921528G>T
NM_001123385.2:c.4292C>A

Protein change:

S1379Y

Links:

dbSNP: rs369432845

NCBI 1000 Genomes Browser:

rs369432845

Molecular consequence:

NM_001123383.1:c.4190C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001123384.2:c.4136C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001123385.2:c.4292C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_017745.6:c.4190C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Abnormal brain morphology
Synonyms:: Abnormality of brain morphology
Identifiers:: MedGen: C4021085; Human Phenotype Ontology: HP:0012443

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000537988	Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	criteria provided, single submitter (Karaca et al. (Neuron 2015))	Likely pathogenic	inherited	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000537988

Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine

criteria provided, single submitter

(Karaca et al. (Neuron 2015))

Likely pathogenic

inherited

research

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	inherited	yes	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.

Karaca E, Harel T, Pehlivan D, Jhangiani SN, Gambin T, Coban Akdemir Z, Gonzaga-Jauregui C, Erdin S, Bayram Y, Campbell IM, Hunter JV, Atik MM, Van Esch H, Yuan B, Wiszniewski W, Isikay S, Yesil G, Yuregir OO, Tug Bozdogan S, Aslan H, Aydin H, Tos T, et al.

Neuron. 2015 Nov 4;88(3):499-513. doi: 10.1016/j.neuron.2015.09.048.

PubMed [citation]

PMID:: 26539891
PMCID:: PMC4824012

Details of each submission

From Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine, SCV000537988.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (1)

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

Last Updated: Apr 6, 2024

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