NM_001451.3(FOXF1):c.416G>A (p.Arg139Gln) AND Pyloric stenosis, infantile hypertrophic, 5

Germline classification:: Likely pathogenic (1 submission)
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:: RCV000119307.1

Allele description [Variation Report for NM_001451.3(FOXF1):c.416G>A (p.Arg139Gln)]

NM_001451.3(FOXF1):c.416G>A (p.Arg139Gln)

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.416G>A (p.Arg139Gln)

HGVS:

NC_000016.10:g.86510985G>A
NG_016273.1:g.5459G>A
NM_001451.3:c.416G>AMANE SELECT
NP_001442.2:p.Arg139Gln
NC_000016.9:g.86544591G>A
NM_001451.2:c.416G>A

Protein change:

R139Q

Links:

dbSNP: rs672601295

NCBI 1000 Genomes Browser:

rs672601295

Molecular consequence:

NM_001451.3:c.416G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Pyloric stenosis, infantile hypertrophic, 5 (IHPS5)
Identifiers:: MONDO: MONDO:0012922; MedGen: C2675862; OMIM: 612525

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000154132	Human Genetics Research Centre, St George's University of London	no assertion criteria provided	probable-pathogenic	not provided	not provided

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000154132

Human Genetics Research Centre, St George's University of London

no assertion criteria provided

probable-pathogenic

not provided

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	not provided	not provided	not provided	not provided	not provided	1	not provided	literature only

Details of each submission

From Human Genetics Research Centre, St George's University of London, SCV000154132.1

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

Description

Converted during submission to Likely pathogenic.

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

Last Updated: Apr 23, 2022

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