NM_001453.3(FOXC1):c.176G>T (p.Gly59Val) AND Congenital anomaly of kidney and urinary tract

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jun 1, 2020
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:: RCV001849728.1

Allele description [Variation Report for NM_001453.3(FOXC1):c.176G>T (p.Gly59Val)]

NM_001453.3(FOXC1):c.176G>T (p.Gly59Val)

Gene:

FOXC1:forkhead box C1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p25.3

Genomic location:

Preferred name:

NM_001453.3(FOXC1):c.176G>T (p.Gly59Val)

HGVS:

NC_000006.12:g.1610621G>T
NG_009368.1:g.5176G>T
NM_001453.3:c.176G>TMANE SELECT
NP_001444.2:p.Gly59Val
LRG_1245t1:c.176G>T
LRG_1245:g.5176G>T
LRG_1245p1:p.Gly59Val
NC_000006.11:g.1610856G>T

Protein change:

G59V

Links:

dbSNP: rs1762519001

NCBI 1000 Genomes Browser:

rs1762519001

Molecular consequence:

NM_001453.3:c.176G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Congenital anomaly of kidney and urinary tract
Synonyms:: Congenital anomalies of kidney and urinary tract; Congenital anomalies of the kidney and urinary tract
Identifiers:: MONDO: MONDO:0019719; MeSH: C566906; MedGen: C1968949; OMIM: PS610805

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002106741	Yale Center for Mendelian Genomics, Yale University - Yale Center for Mendelian Genomics	no assertion criteria provided	Likely pathogenic (Jun 1, 2020)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002106741

Yale Center for Mendelian Genomics, Yale University - Yale Center for Mendelian Genomics

no assertion criteria provided

Likely pathogenic
(Jun 1, 2020)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Phenotype expansion of heterozygous FOXC1 pathogenic variants toward involvement of congenital anomalies of the kidneys and urinary tract (CAKUT).

Wu CW, Mann N, Nakayama M, Connaughton DM, Dai R, Kolvenbach CM, Kause F, Ottlewski I, Wang C, Klämbt V, Seltzsam S, Lai EW, Selvin A, Senguttuva P, Bodamer O, Stein DR, El Desoky S, Kari JA, Tasic V, Bauer SB, Shril S, Hildebrandt F.

Genet Med. 2020 Oct;22(10):1673-1681. doi: 10.1038/s41436-020-0844-z. Epub 2020 Jun 1.

PubMed [citation]

PMID:: 32475988
PMCID:: PMC8220407

Details of each submission

From Yale Center for Mendelian Genomics, Yale University - Yale Center for Mendelian Genomics, SCV002106741.1

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

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

Last Updated: Dec 24, 2023

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