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NM_000278.5(PAX2):c.167G>A (p.Arg56Gln) AND Focal segmental glomerulosclerosis 7

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 1, 2014
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:
RCV000144051.3

Allele description [Variation Report for NM_000278.5(PAX2):c.167G>A (p.Arg56Gln)]

NM_000278.5(PAX2):c.167G>A (p.Arg56Gln)

Gene:
PAX2:paired box 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q24.31
Genomic location:
Preferred name:
NM_000278.5(PAX2):c.167G>A (p.Arg56Gln)
HGVS:
  • NC_000010.11:g.100749869G>A
  • NG_008680.2:g.19161G>A
  • NM_000278.5:c.167G>AMANE SELECT
  • NM_001304569.2:c.260G>A
  • NM_003987.5:c.167G>A
  • NM_003988.5:c.167G>A
  • NM_003989.5:c.167G>A
  • NM_003990.5:c.167G>A
  • NP_000269.3:p.Arg56Gln
  • NP_001291498.1:p.Arg87Gln
  • NP_003978.3:p.Arg56Gln
  • NP_003979.2:p.Arg56Gln
  • NP_003980.3:p.Arg56Gln
  • NP_003981.3:p.Arg56Gln
  • NC_000010.10:g.102509626G>A
  • Q02962:p.Arg56Gln
Protein change:
R56Q; ARG56GLN
Links:
UniProtKB: Q02962#VAR_071938; OMIM: 167409.0014; dbSNP: rs587777708
NCBI 1000 Genomes Browser:
rs587777708
Molecular consequence:
  • NM_000278.5:c.167G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001304569.2:c.260G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003987.5:c.167G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003988.5:c.167G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003989.5:c.167G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003990.5:c.167G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Focal segmental glomerulosclerosis 7 (FSGS7)
Identifiers:
MONDO: MONDO:0014451; MedGen: C4014925; Orphanet: 656; OMIM: 616002

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000189111OMIM
no assertion criteria provided
Pathogenic
(Sep 1, 2014) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Mutations in PAX2 associate with adult-onset FSGS.

Barua M, Stellacci E, Stella L, Weins A, Genovese G, Muto V, Caputo V, Toka HR, Charoonratana VT, Tartaglia M, Pollak MR.

J Am Soc Nephrol. 2014 Sep;25(9):1942-53. doi: 10.1681/ASN.2013070686. Epub 2014 Mar 27.

PubMed [citation]
PMID:
24676634
PMCID:
PMC4147972

Details of each submission

From OMIM, SCV000189111.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In affected members of a family of Middle Eastern descent (FG-IX) with FSGS7 (616002), Barua et al. (2014) identified a heterozygous c.167G-A transition in exon 2 of the PAX2 gene, resulting in an arg56-to-gln (R56Q) substitution in the N-terminal paired subdomain. The mutation was not present in the dbSNP (build 137), 1000 Genomes Project, or Exome Sequencing Project databases. In vitro functional expression studies in HEK293T cells showed that the mutation disrupted proper binding to DNA, resulting in decreased transactivation activity compared to wildtype.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022