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NM_002661.5(PLCG2):c.502A>G (p.Thr168Ala) AND not provided

Germline classification:
Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:
Oct 1, 2023
Review status:
criteria provided, conflicting classifications
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:
RCV000497427.6

Allele description

NM_002661.5(PLCG2):c.502A>G (p.Thr168Ala)

Gene:
PLCG2:phospholipase C gamma 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q23.3
Genomic location:
Preferred name:
NM_002661.5(PLCG2):c.502A>G (p.Thr168Ala)
HGVS:
  • NC_000016.10:g.81869236A>G
  • NG_032019.2:g.135140A>G
  • NM_002661.5:c.502A>GMANE SELECT
  • NP_002652.2:p.Thr168Ala
  • LRG_376:g.135140A>G
  • NC_000016.9:g.81902841A>G
  • NM_002661.4:c.502A>G
Protein change:
T168A
Links:
dbSNP: rs753974933
NCBI 1000 Genomes Browser:
rs753974933
Molecular consequence:
  • NM_002661.5:c.502A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000590035GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Jun 1, 2017) 		germlineclinical testing

Citation Link,

SCV004145093CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)		Likely benign
(Oct 1, 2023) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000590035.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The T168A variant in the PLCG2 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The T168A variant is observed in 1/66726 (0.003%) alleles from individuals of European non-Finnish background in the ExAC dataset (Lek et al., 2016). The T168A variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. However, this substitution occurs at a position that is not conserved across species, and in silico analysis predicts this variant likely does not alter the protein structure/function. We interpret T168A as a variant of uncertain significance.

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

From CeGaT Center for Human Genetics Tuebingen, SCV004145093.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

PLCG2: BP4

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

Last Updated: Apr 15, 2024