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NM_000301.5(PLG):c.1735G>A (p.Gly579Arg) AND Atypical hemolytic-uremic syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 27, 2018
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:
RCV001328254.1

Allele description [Variation Report for NM_000301.5(PLG):c.1735G>A (p.Gly579Arg)]

NM_000301.5(PLG):c.1735G>A (p.Gly579Arg)

Gene:
PLG:plasminogen [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6q26
Genomic location:
Preferred name:
NM_000301.5(PLG):c.1735G>A (p.Gly579Arg)
HGVS:
  • NC_000006.12:g.160736940G>A
  • NG_016200.1:g.39748G>A
  • NM_000301.5:c.1735G>AMANE SELECT
  • NP_000292.1:p.Gly579Arg
  • LRG_571t1:c.1735G>A
  • LRG_571:g.39748G>A
  • NC_000006.11:g.161157972G>A
  • NM_000301.3:c.1735G>A
Protein change:
G579R
Links:
dbSNP: rs138728014
NCBI 1000 Genomes Browser:
rs138728014
Molecular consequence:
  • NM_000301.5:c.1735G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Atypical hemolytic-uremic syndrome
Synonyms:
Atypical HUS
Identifiers:
MONDO: MONDO:0016244; MedGen: C2931788

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001449407Sydney Genome Diagnostics, Children's Hospital Westmead
no assertion criteria provided
Uncertain significance
(Aug 27, 2018) 		unknownclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Sydney Genome Diagnostics, Children's Hospital Westmead, SCV001449407.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

This patient is heterozygous for a variant of uncertain significance (VOUS), c.1735G>A (p.Gly579Arg), in the PLG gene. To our knowledge, this variant has not been previously reported in the literature to be associated with disease. This variant has been reported in the ExAC database (http://exac.broadinstitute.org) with a low allele frequency of 0.026% (31/121370 alleles). In silico analysis (using Alamut Visual 2.8.1) using PolyPhen2, SIFT and Mutation Taster suggest that this variant is likely to be pathogenic. PLG variants have been reported in patients with aHUS and C3GN (Bu et al 2015 J Am Soc Nephrol 27:1245-53) with an autosomal dominant inheritance as well as in plasminogen deficiency and dysplasminogenemia (OMIM 173350) with an autosomal recessive inheritance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: May 1, 2024