NM_001451.3(FOXF1):c.225C>A (p.Tyr75Ter) AND Alveolar capillary dysplasia with pulmonary venous misalignment

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 1, 2009
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:: RCV000008983.4

Allele description [Variation Report for NM_001451.3(FOXF1):c.225C>A (p.Tyr75Ter)]

NM_001451.3(FOXF1):c.225C>A (p.Tyr75Ter)

Gene:

FOXF1:forkhead box F1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q24.1

Genomic location:

Preferred name:

NM_001451.3(FOXF1):c.225C>A (p.Tyr75Ter)

Other names:

Y50*

HGVS:

NC_000016.10:g.86510794C>A
NG_016273.1:g.5268C>A
NM_001451.3:c.225C>AMANE SELECT
NP_001442.2:p.Tyr75Ter
NC_000016.9:g.86544400C>A

Protein change:

Y75*; TYR50TER

Links:

OMIM: 601089.0001; dbSNP: rs121909336

NCBI 1000 Genomes Browser:

rs121909336

Molecular consequence:

NM_001451.3:c.225C>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Alveolar capillary dysplasia with pulmonary venous misalignment
Synonyms:: ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS AND OTHER CONGENITAL ANOMALIES; Alveolar capillary dysplasia with misalignment of pulmonary veins; Congenital alveolar capillary dysplasia
Identifiers:: MONDO: MONDO:0009934; MedGen: C2960310; Orphanet: 210122; OMIM: 265380

Recent activity

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Exp132 (0)
Protein Family Models
hypothetical protein V9T20_12905 (plasmid) [Halobacterium salinarum]
hypothetical protein V9T20_12905 (plasmid) [Halobacterium salinarum]
gi|2696630531|gnl|PRJNA1083212|V9T2 05|gb|WWX76880.1|

Protein
PREDICTED: Homo sapiens SLX9 ribosome biogenesis factor (SLX9), transcript varia...
PREDICTED: Homo sapiens SLX9 ribosome biogenesis factor (SLX9), transcript variant X1, mRNA
gi|2217338253|ref|XM_017028481.3|

Nucleotide
Mus musculus 8 days embryo whole body cDNA, RIKEN full-length enriched library, ...
Mus musculus 8 days embryo whole body cDNA, RIKEN full-length enriched library, clone:5730497N19 product:unclassifiable, full insert sequence
gi|12857136|dbj|AK017739.1|

Nucleotide
Homo sapiens cDNA clone IMAGE:5269432
Homo sapiens cDNA clone IMAGE:5269432
gi|27469708|gb|BC041845.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000029197	OMIM	no assertion criteria provided	Pathogenic (Jun 1, 2009)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 15520767, 19500772

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000029197

OMIM

no assertion criteria provided

Pathogenic
(Jun 1, 2009)

germline

literature only

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

Citations

PubMed

Expanding the phenotype of alveolar capillary dysplasia (ACD).

Sen P, Thakur N, Stockton DW, Langston C, Bejjani BA.

J Pediatr. 2004 Nov;145(5):646-51.

PubMed [citation]

PMID:: 15520767

Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations.

Stankiewicz P, Sen P, Bhatt SS, Storer M, Xia Z, Bejjani BA, Ou Z, Wiszniewska J, Driscoll DJ, Maisenbacher MK, Bolivar J, Bauer M, Zackai EH, McDonald-McGinn D, Nowaczyk MM, Murray M, Hustead V, Mascotti K, Schultz R, Hallam L, McRae D, Nicholson AG, et al.

Am J Hum Genet. 2009 Jun;84(6):780-91. doi: 10.1016/j.ajhg.2009.05.005. Epub 2009 Jun 4. Erratum in: Am J Hum Genet. 2009 Oct;85(4):537. multiple author names added.

PubMed [citation]

PMID:: 19500772
PMCID:: PMC2694971

Details of each submission

From OMIM, SCV000029197.2

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

Description

In a male infant with congenital alveolar capillary dysplasia and misalignment of the pulmonary veins (ACDMPV; 265380), previously reported by Sen et al. (2004), who died on day 10 of life and was also found to have a partial atrioventricular canal defect, patent ductus arteriosus, intestinal malrotation, annular pancreas and duodenal stenosis, bilateral hydronephrosis, hydroureter, and dilatation of the urinary bladder, Stankiewicz et al. (2009) identified heterozygosity for a 150C-A transversion in exon 1 of the FOXF1 gene, resulting in a tyr50-to-ter (Y50X) substitution in the forkhead box F1 domain.

#	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: Jun 24, 2022

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