NM_002449.5(MSX2):c.345del (p.Ala114_Trp115insTer) AND Parietal foramina 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 1, 2000
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000018479.25

Allele description [Variation Report for NM_002449.5(MSX2):c.345del (p.Ala114_Trp115insTer)]

NM_002449.5(MSX2):c.345del (p.Ala114_Trp115insTer)

Gene:

MSX2:msh homeobox 2 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

5q35.2

Genomic location:

Preferred name:

NM_002449.5(MSX2):c.345del (p.Ala114_Trp115insTer)

Other names:

W115*

HGVS:

NC_000005.10:g.174725004del
NG_008124.1:g.5433del
NM_001363626.2:c.345del
NM_002449.5:c.345delMANE SELECT
NP_001350555.1:p.Ala114_Trp115insTer
NP_002440.2:p.Ala114_Trp115insTer
NC_000005.9:g.174152007del

Protein change:

TRP115TER

Links:

OMIM: 123101.0006; dbSNP: rs121912972

NCBI 1000 Genomes Browser:

rs121912972

Molecular consequence:

NM_001363626.2:c.345del - nonsense - [Sequence Ontology: SO:0001587]
NM_002449.5:c.345del - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Parietal foramina 1 (PFM1)
Synonyms:: PARIETAL FORAMINA, SYMMETRIC; FORAMINA PARIETALIA PERMAGNA
Identifiers:: MONDO: MONDO:0008197; MedGen: C1868599; Orphanet: 60015; OMIM: 168500

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Hs6st [Homarus americanus]
Hs6st [Homarus americanus]
Gene ID:121867294

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000038761	OMIM	no assertion criteria provided	Pathogenic (May 1, 2000)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000038761

OMIM

no assertion criteria provided

Pathogenic
(May 1, 2000)

germline

literature only

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	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Identification of mutations in the MSX2 homeobox gene in families affected with foramina parietalia permagna.

Wuyts W, Reardon W, Preis S, Homfray T, Rasore-Quartino A, Christians H, Willems PJ, Van Hul W.

Hum Mol Genet. 2000 May 1;9(8):1251-5.

PubMed [citation]

PMID:: 10767351

Details of each submission

From OMIM, SCV000038761.3

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

Description

In a family with autosomal dominant enlarged parietal foramina (PFM1; 168500), Wuyts et al. (2000) identified a 1-bp deletion at nucleotide 344 or 345 of the MSX2 gene, resulting in a trp115-to-ter substitution. The protein product was predicted to lack the entire C terminus, which includes the conserved homeodomain.

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

Last Updated: Jul 29, 2023

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