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NM_016341.4(PLCE1):c.6757G>A (p.Ala2253Thr) AND Nephrotic syndrome, type 3

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Nov 9, 2021
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:
RCV000984912.2

Allele description [Variation Report for NM_016341.4(PLCE1):c.6757G>A (p.Ala2253Thr)]

NM_016341.4(PLCE1):c.6757G>A (p.Ala2253Thr)

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.6757G>A (p.Ala2253Thr)
HGVS:
  • NC_000010.11:g.94324928G>A
  • NG_015799.1:g.335940G>A
  • NM_001165979.2:c.5833G>A
  • NM_001288989.2:c.6709G>A
  • NM_016341.4:c.6757G>AMANE SELECT
  • NP_001159451.1:p.Ala1945Thr
  • NP_001275918.1:p.Ala2237Thr
  • NP_057425.3:p.Ala2253Thr
  • NC_000010.10:g.96084685G>A
  • NM_016341.3:c.6757G>A
Protein change:
A1945T
Links:
dbSNP: rs180876175
NCBI 1000 Genomes Browser:
rs180876175
Molecular consequence:
  • NM_001165979.2:c.5833G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001288989.2:c.6709G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_016341.4:c.6757G>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
SCV001132820Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
no assertion criteria provided
Uncertain significance
(Jan 29, 2019) 		germlineclinical testing

SCV002815869Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Nov 9, 2021) 		unknownclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City, SCV001132820.1

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

From Fulgent Genetics, Fulgent Genetics, SCV002815869.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 24, 2023