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NM_001451.3(FOXF1):c.145C>T (p.Pro49Ser) AND Alveolar capillary dysplasia with pulmonary venous misalignment

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 1, 2019
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:
RCV000984333.2

Allele description [Variation Report for NM_001451.3(FOXF1):c.145C>T (p.Pro49Ser)]

NM_001451.3(FOXF1):c.145C>T (p.Pro49Ser)

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.145C>T (p.Pro49Ser)
HGVS:
  • NC_000016.10:g.86510714C>T
  • NG_016273.1:g.5188C>T
  • NM_001451.3:c.145C>TMANE SELECT
  • NP_001442.2:p.Pro49Ser
  • NC_000016.9:g.86544320C>T
Protein change:
P49S
Links:
dbSNP: rs1597291206
NCBI 1000 Genomes Browser:
rs1597291206
Molecular consequence:
  • NM_001451.3:c.145C>T - missense variant - [Sequence Ontology: SO:0001583]

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001055832Stankiewicz Research Laboratory, Baylor College of Medicine
no assertion criteria provided
Pathogenic
(Oct 1, 2019) 		de novoresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes11not providednot providednot providedresearch

Details of each submission

From Stankiewicz Research Laboratory, Baylor College of Medicine, SCV001055832.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided1not provided1not provided

Last Updated: Jun 24, 2022