NM_005515.4(MNX1):c.355C>A (p.Pro119Thr) AND Currarino triad

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 1, 2023
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:: RCV003885332.1

Allele description [Variation Report for NM_005515.4(MNX1):c.355C>A (p.Pro119Thr)]

NM_005515.4(MNX1):c.355C>A (p.Pro119Thr)

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.355C>A (p.Pro119Thr)

HGVS:

NC_000007.14:g.157009996G>T
NG_013212.1:g.5658C>A
NG_179182.1:g.212G>T
NM_005515.4:c.355C>AMANE SELECT
NP_005506.3:p.Pro119Thr
NC_000007.13:g.156802690G>T
NM_005515.3:c.355C>A

Protein change:

P119T

Molecular consequence:

NM_005515.4:c.355C>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV004170999	DECIPHERD-UDD, Universidad del Desarrollo	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jul 1, 2023)	de novo	research	PubMed (2) [See all records that cite these PMIDs] 25741868, 38177409

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004170999

DECIPHERD-UDD, Universidad del Desarrollo

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jul 1, 2023)

de novo

research

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

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

Decoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile.

Poli MC, Rebolledo-Jaramillo B, Lagos C, Orellana J, Moreno G, Martín LM, Encina G, Böhme D, Faundes V, Zavala MJ, Hasbún T, Fischer S, Brito F, Araya D, Lira M, de la Cruz J, Astudillo C, Lay-Son G, Cares C, Aracena M, Martin ES, Coban-Akdemir Z, et al.

Eur J Hum Genet. 2024 Jan 4. doi: 10.1038/s41431-023-01523-5. [Epub ahead of print]

PubMed [citation]

PMID:: 38177409

Details of each submission

From DECIPHERD-UDD, Universidad del Desarrollo, SCV004170999.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (2)

#	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		not provided	not provided	not provided	not provided

Last Updated: Mar 10, 2024

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