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NM_016341.3(PLCE1):c.[6093T>C;6800G>A] AND Nephrotic syndrome, type 3

Germline classification:
Uncertain significance (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:
RCV000256386.3

Alleles description [Variation Report for NM_016341.3(PLCE1):c.[6093T>C;6800G>A]]

NM_016341.4(PLCE1):c.6093T>C (p.Thr2031=)

Gene:
PLCE1:phospholipase C epsilon 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q23.33
Genomic location:
Preferred name:
NM_016341.4(PLCE1):c.6093T>C (p.Thr2031=)
HGVS:
  • NC_000010.11:g.94313343T>C
  • NG_015799.1:g.324355T>C
  • NM_001165979.2:c.5169T>C
  • NM_001288989.2:c.6045T>C
  • NM_016341.4:c.6093T>CMANE SELECT
  • NP_001159451.1:p.Thr1723=
  • NP_001275918.1:p.Thr2015=
  • NP_057425.3:p.Thr2031=
  • NC_000010.10:g.96073100T>C
  • NM_016341.3:c.6093T>C
Links:
dbSNP: rs886039891
NCBI 1000 Genomes Browser:
rs886039891
Molecular consequence:
  • NM_001165979.2:c.5169T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001288989.2:c.6045T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_016341.4:c.6093T>C - synonymous variant - [Sequence Ontology: SO:0001819]

NM_016341.4(PLCE1):c.6800G>A (p.Arg2267Gln)

Genes:
NOC3L:NOC3 like DNA replication regulator [Gene - OMIM - HGNC]
PLCE1:phospholipase C epsilon 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q23.33
Genomic location:
Preferred name:
NM_016341.4(PLCE1):c.6800G>A (p.Arg2267Gln)
HGVS:
  • NC_000010.11:g.94324971G>A
  • NG_015799.1:g.335983G>A
  • NM_001165979.2:c.5876G>A
  • NM_001288989.2:c.6752G>A
  • NM_016341.4:c.6800G>AMANE SELECT
  • NP_001159451.1:p.Arg1959Gln
  • NP_001275918.1:p.Arg2251Gln
  • NP_057425.3:p.Arg2267Gln
  • NC_000010.10:g.96084728G>A
  • NM_016341.3:c.6800G>A
Protein change:
R1959Q
Links:
dbSNP: rs886039892
NCBI 1000 Genomes Browser:
rs886039892
Molecular consequence:
  • NM_001165979.2:c.5876G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001288989.2:c.6752G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_016341.4:c.6800G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Nephrotic syndrome, type 3 (NPHS3)
Synonyms:
NEPHROTIC SYNDROME, EARLY-ONSET, TYPE 3
Identifiers:
MONDO: MONDO:0012546; MedGen: C1853124; Orphanet: 656; OMIM: 610725

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000323171Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
no assertion criteria provided
Uncertain significancegermlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare, SCV000323171.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024