NM_001451.3(FOXF1):c.316T>C (p.Phe106Leu) 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:: RCV000984343.2

Allele description [Variation Report for NM_001451.3(FOXF1):c.316T>C (p.Phe106Leu)]

NM_001451.3(FOXF1):c.316T>C (p.Phe106Leu)

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.316T>C (p.Phe106Leu)

HGVS:

NC_000016.10:g.86510885T>C
NG_016273.1:g.5359T>C
NM_001451.3:c.316T>CMANE SELECT
NP_001442.2:p.Phe106Leu
NC_000016.9:g.86544491T>C

Protein change:

F106L

Links:

dbSNP: rs1597291318

NCBI 1000 Genomes Browser:

rs1597291318

Molecular consequence:

NM_001451.3:c.316T>C - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001055843	Stankiewicz Research Laboratory, Baylor College of Medicine	no assertion criteria provided	Pathogenic (Oct 1, 2019)	paternal	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001055843

Stankiewicz Research Laboratory, Baylor College of Medicine

no assertion criteria provided

Pathogenic
(Oct 1, 2019)

paternal

research

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	paternal	yes	1	1	not provided	not provided	not provided	research

Details of each submission

From Stankiewicz Research Laboratory, Baylor College of Medicine, SCV001055843.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	research	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	paternal	yes	not provided	not provided	not provided		1	not provided	1	not provided

Last Updated: Jun 24, 2022

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