NM_005515.4(MNX1):c.844G>T (p.Glu282Ter) AND Currarino triad

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 15, 2006
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:: RCV000015984.26

Allele description [Variation Report for NM_005515.4(MNX1):c.844G>T (p.Glu282Ter)]

NM_005515.4(MNX1):c.844G>T (p.Glu282Ter)

Genes:

MNX1-AS2:MNX1 antisense RNA 2 [Gene - HGNC]
MNX1:motor neuron and pancreas homeobox 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q36.3

Genomic location:

Preferred name:

NM_005515.4(MNX1):c.844G>T (p.Glu282Ter)

Other names:

E283*

HGVS:

NC_000007.14:g.157006487C>A
NG_013212.1:g.9167G>T
NM_001165255.2:c.208G>T
NM_005515.4:c.844G>TMANE SELECT
NP_001158727.1:p.Glu70Ter
NP_005506.3:p.Glu282Ter
NC_000007.13:g.156799181C>A

Protein change:

E282*; GLU283TER

Links:

OMIM: 142994.0010; dbSNP: rs121912549

NCBI 1000 Genomes Browser:

rs121912549

Molecular consequence:

NM_001165255.2:c.208G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_005515.4:c.844G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Currarino triad
Synonyms:: Partial sacral agenesis with intact first sacral vertebra, presacral mass and anorectal malformation
Identifiers:: MONDO: MONDO:0008305; MedGen: C1531773; Orphanet: 1552; OMIM: 176450

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000036251	OMIM	no assertion criteria provided	Pathogenic (Sep 15, 2006)	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

SCV000036251

OMIM

no assertion criteria provided

Pathogenic
(Sep 15, 2006)

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

A previously unreported mutation in a Currarino syndrome kindred.

Wang RY, Jones JR, Chen S, Rogers RC, Friez MJ, Schwartz CE, Graham JM Jr.

Am J Med Genet A. 2006 Sep 15;140(18):1923-30.

PubMed [citation]

PMID:: 16906559

Details of each submission

From OMIM, SCV000036251.2

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

Description

In affected members of a 4-generation family with Currarino syndrome (176450), Wang et al. (2006) identified heterozygosity for a 4282G-T transversion in the HLXB9 gene, resulting in a glu283-to-ter (E283X) substitution in the DNA-binding domain. The mutation segregated with the disease and was not found in 5 unaffected family members.

#	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: Apr 23, 2022

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