NM_001005242.3(PKP2):c.951G>A (p.Ala317=) AND not specified

Germline classification:: Benign (3 submissions)
Last evaluated:: Aug 12, 2015
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:: RCV000038231.8

Allele description [Variation Report for NM_001005242.3(PKP2):c.951G>A (p.Ala317=)]

NM_001005242.3(PKP2):c.951G>A (p.Ala317=)

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.951G>A (p.Ala317=)

HGVS:

NC_000012.12:g.32877929C>T
NG_009000.1:g.23918G>A
NM_001005242.3:c.951G>AMANE SELECT
NM_004572.4:c.951G>A
NP_001005242.2:p.Ala317=
NP_004563.2:p.Ala317=
NP_004563.2:p.Ala317=
LRG_398t1:c.951G>A
LRG_398:g.23918G>A
LRG_398p1:p.Ala317=
NC_000012.11:g.33030863C>T
NM_004572.3:c.951G>A
c.951G>A
p.Ala317Ala

Links:

dbSNP: rs61729382

NCBI 1000 Genomes Browser:

rs61729382

Molecular consequence:

NM_001005242.3:c.951G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_004572.4:c.951G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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PREDICTED: Cucurbita maxima respiratory burst oxidase homolog protein A-like (LO...
PREDICTED: Cucurbita maxima respiratory burst oxidase homolog protein A-like (LOC111470370), transcript variant X1, mRNA
gi|1280983494|ref|XM_023115937.1|

Nucleotide
Gm44779 AND (alive[prop]) (0)
Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000061899	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Benign (Feb 7, 2012)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000514126	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Benign (Aug 12, 2015)	germline	clinical testing	Citation Link,
SCV001925401	Clinical Genetics, Academic Medical Center - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Benign	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000061899

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Benign
(Feb 7, 2012)

germline

clinical testing

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

SCV000514126

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Benign
(Aug 12, 2015)

germline

clinical testing

Citation Link,

SCV001925401

Clinical Genetics, Academic Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided

Benign

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	not provided	6	6	not provided	not provided	not provided	clinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]

PMID:: 24033266
PMCID:: PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000061899.6

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	6	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		6	not provided	6	not provided

From GeneDx, SCV000514126.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Clinical Genetics, Academic Medical Center - VKGL Data-share Consensus, SCV001925401.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 20, 2024

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