NM_000458.4(HNF1B):c.703C>T (p.Arg235Trp) AND Familial hypoplastic, glomerulocystic kidney

This record was updated by the submitter. Please see the current version.

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Aug 18, 2011
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV000030532.1

Allele description

NM_000458.4(HNF1B):c.703C>T (p.Arg235Trp)

Gene:

HNF1B:HNF1 homeobox B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q12

Genomic location:

Preferred name:

NM_000458.4(HNF1B):c.703C>T (p.Arg235Trp)

HGVS:

NC_000017.11:g.37733663G>A
NG_013019.2:g.16444C>T
NM_000458.4:c.703C>TMANE SELECT
NM_001165923.4:c.625C>T
NM_001304286.2:c.625C>T
NP_000449.1:p.Arg235Trp
NP_001159395.1:p.Arg209Trp
NP_001291215.1:p.Arg209Trp
NC_000017.10:g.36093656G>A
NM_000458.2:c.703C>T
NM_000458.3:c.703C>T

Protein change:

R209W

Links:

Molecular consequence:

NM_000458.4:c.703C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001165923.4:c.625C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001304286.2:c.625C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Familial hypoplastic, glomerulocystic kidney (RCAD)
Synonyms:: Maturity-onset diabetes of the young, type 5; MODY type 5; Hyperuricemic nephropathy, familial juvenile, atypical; See all synonyms [MedGen]
Identifiers:: MedGen: C0431693; Orphanet: 93111; OMIM: 137920

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000053203	Integrated Genetics/Laboratory Corporation of America	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	likely pathogenic (Aug 18, 2011)	germline	curation, clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000053203

Integrated Genetics/Laboratory Corporation of America

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

likely pathogenic
(Aug 18, 2011)

germline

curation, clinical testing

Citation Link

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	curation
not provided	germline	unknown	3	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Integrated Genetics/Laboratory Corporation of America, SCV000053203.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	not provided
2	not provided	not provided	not provided	not provided	clinical testing	not provided
3	not provided	not provided	not provided	not provided	clinical testing	not provided
4	not provided	not provided	not provided	not provided	clinical testing	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	germline	yes	not provided	Blood	assert pathogenicity		not provided	not provided	not provided	not provided
2	germline	unknown	not provided	Blood	assert pathogenicity		not provided	not provided	not provided	See 2
3	germline	unknown	not provided	Blood	assert pathogenicity		not provided	not provided	not provided	See 3
4	germline	unknown	not provided	Blood	assert pathogenicity		not provided	not provided	not provided	See 4

Co-occurrences

#	Zygosity	Alleles	Number of Observations
2	SingleHeterozygote	IPF1:c.716C>A, TCF1:c.864G>C, TCF1:c.51C>G, TCF1:c.1545G>A, TCF1:c.1501+7G>A, TCF1:c.1460G>A, TCF1:c.1375C>T, TCF1:c.79A>C, TCF1:c.1720A>G	1
3	SingleHeterozygote	HNF4A:c.116-5C>T, TCF1:c.51C>G, TCF1:c.1501+7G>A, TCF1:c.1460G>A, TCF1:c.1375C>T, TCF1:c.79A>C, TCF1:c.1720A>G, TCF1:c.1107+9C>G	1
4	SingleHeterozygote	TCF1:c.1107+9C>G	1

Last Updated: Aug 1, 2020

ClinVar

Relating variation to medicine