NM_002430.3(MN1):c.2287G>A (p.Val763Met) AND CEBALID syndrome

Germline classification:: Uncertain significance (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:: RCV004585205.1

Allele description [Variation Report for NM_002430.3(MN1):c.2287G>A (p.Val763Met)]

NM_002430.3(MN1):c.2287G>A (p.Val763Met)

Gene:

MN1:MN1 proto-oncogene, transcriptional regulator [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q12.1

Genomic location:

Preferred name:

NM_002430.3(MN1):c.2287G>A (p.Val763Met)

HGVS:

NC_000022.11:g.27798257C>T
NG_023258.1:g.8242G>A
NM_002430.3:c.2287G>AMANE SELECT
NP_002421.3:p.Val763Met
NC_000022.10:g.28194245C>T
NM_002430.2:c.2287G>A

Protein change:

V763M

Molecular consequence:

NM_002430.3:c.2287G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: CEBALID syndrome (CEBALID)
Synonyms:: CRANIOFACIAL DEFECTS, DYSMORPHIC EARS, STRUCTURAL BRAIN ABNORMALITIES, EXPRESSIVE LANGUAGE DELAY, AND IMPAIRED INTELLECTUAL DEVELOPMENT; MN1 C-TERMINAL TRUNCATION SYNDROME
Identifiers:: MONDO: MONDO:0032908; MedGen: C5394044; OMIM: 618774

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005073729	Unité De Génétique Médicale, Université Saint Joseph	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance	de novo	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005073729

Unité De Génétique Médicale, Université Saint Joseph

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance

de novo

clinical testing

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
Arab	de novo	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Unité De Génétique Médicale, Université Saint Joseph, SCV005073729.1

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

Description

The MN1 variant c.2287G>A p.(Val763Met) causes an amino acid change from Valine to Methionine at position 763. Pathogenic variants in MN1 gene are associated with meningioma and CEBALID syndrome, autosomal dominant disorders. In silico parameters predicts this variant to be Possibly damaging (PolyPhen) and Deleterious (SIFT). This variant is absent from ClinVar and to our current knowledge has not been reported in an individual with CEBALID syndrome in the literature. The clinical significance of the c.2287G>A p.(Val763Met) variant remains unclear due to lack of compelling evidence for its pathogenicity.

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

Last Updated: Jul 23, 2024

ClinVar

Relating variation to medicine