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NM_005515.4(MNX1):c.853-2A>G AND Currarino triad

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 1, 1998
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:
RCV000015980.26

Allele description [Variation Report for NM_005515.4(MNX1):c.853-2A>G]

NM_005515.4(MNX1):c.853-2A>G

Gene:
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.853-2A>G
HGVS:
  • NC_000007.14:g.157005875T>C
  • NG_013212.1:g.9779A>G
  • NG_113020.1:g.695T>C
  • NM_001165255.2:c.217-2A>G
  • NM_005515.4:c.853-2A>GMANE SELECT
  • NC_000007.13:g.156798569T>C
  • NM_005515.3:c.853-2A>G
Note:
ClinGen staff contributed the HGVS expression for this variant.
Nucleotide change:
IVS2, A-G, -2
Links:
OMIM: 142994.0006; dbSNP: rs1563700090
NCBI 1000 Genomes Browser:
rs1563700090
Molecular consequence:
  • NM_001165255.2:c.217-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_005515.4:c.853-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000036247OMIM
no assertion criteria provided
Pathogenic
(Dec 1, 1998) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis.

Ross AJ, Ruiz-Perez V, Wang Y, Hagan DM, Scherer S, Lynch SA, Lindsay S, Custard E, Belloni E, Wilson DI, Wadey R, Goodman F, Orstavik KH, Monclair T, Robson S, Reardon W, Burn J, Scambler P, Strachan T.

Nat Genet. 1998 Dec;20(4):358-61.

PubMed [citation]
PMID:
9843207

Details of each submission

From OMIM, SCV000036247.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In affected members of a British family with autosomal dominant sacral agenesis (176450), Ross et al. (1998) found a heterozygous splice site mutation in the HLXB9 gene, replacing the conserved AG at the 3-prime end of intron 2 (positions 4889-4890) with GG. Clinical features in this family included severe anal stenosis requiring anal dilatation, presacral mass (anterior meningocele), imperforate anus, meningitis, and anterior ectopic anus and anal cysts. Some members of the family were asymptomatic, but x-rays revealed sacral abnormalities (the typical scimitar sacrum).

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

Last Updated: Jun 10, 2023