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NM_001005242.3(PKP2):c.939C>T (p.Ser313=) AND not provided

Germline classification:
Benign/Likely benign (2 submissions)
Last evaluated:
Sep 1, 2022
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV001719751.14

Allele description [Variation Report for NM_001005242.3(PKP2):c.939C>T (p.Ser313=)]

NM_001005242.3(PKP2):c.939C>T (p.Ser313=)

Gene:
PKP2:plakophilin 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12p11.21
Genomic location:
Preferred name:
NM_001005242.3(PKP2):c.939C>T (p.Ser313=)
HGVS:
  • NC_000012.12:g.32877941G>A
  • NG_009000.1:g.23906C>T
  • NM_001005242.3:c.939C>TMANE SELECT
  • NM_004572.4:c.939C>T
  • NP_001005242.2:p.Ser313=
  • NP_004563.2:p.Ser313=
  • NP_004563.2:p.Ser313=
  • LRG_398t1:c.939C>T
  • LRG_398:g.23906C>T
  • LRG_398p1:p.Ser313=
  • NC_000012.11:g.33030875G>A
  • NM_004572.3:c.939C>T
  • c.939C>T
  • p.Ser313Ser
Links:
dbSNP: rs61729381
NCBI 1000 Genomes Browser:
rs61729381
Molecular consequence:
  • NM_001005242.3:c.939C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_004572.4:c.939C>T - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
1

Condition(s)

Synonyms:
none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000514125GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Likely benign
(Apr 27, 2022)
germlineclinical testing

Citation Link,

SCV004130536CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)
Benign
(Sep 1, 2022)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000514125.7

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

Description

See Variant Classification Assertion Criteria.

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

From CeGaT Center for Human Genetics Tuebingen, SCV004130536.11

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

PKP2: BS1, BS2

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

Last Updated: Dec 22, 2024