NM_003560.4(PLA2G6):c.1993A>G (p.Met665Val) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 19, 2015
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:: RCV000504488.6

Allele description [Variation Report for NM_003560.4(PLA2G6):c.1993A>G (p.Met665Val)]

NM_003560.4(PLA2G6):c.1993A>G (p.Met665Val)

Gene:

PLA2G6:phospholipase A2 group VI [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q13.1

Genomic location:

Preferred name:

NM_003560.4(PLA2G6):c.1993A>G (p.Met665Val)

HGVS:

NC_000022.11:g.38115568T>C
NG_007094.3:g.104211A>G
NG_033059.2:g.102A>G
NM_001004426.3:c.1831A>G
NM_001199562.3:c.1831A>G
NM_001349864.2:c.1993A>G
NM_001349865.2:c.1831A>G
NM_001349866.2:c.1831A>G
NM_001349867.2:c.1459A>G
NM_001349868.2:c.1315A>G
NM_001349869.2:c.1297A>G
NM_003560.4:c.1993A>GMANE SELECT
NP_001004426.1:p.Met611Val
NP_001186491.1:p.Met611Val
NP_001336793.1:p.Met665Val
NP_001336794.1:p.Met611Val
NP_001336795.1:p.Met611Val
NP_001336796.1:p.Met487Val
NP_001336797.1:p.Met439Val
NP_001336798.1:p.Met433Val
NP_003551.2:p.Met665Val
LRG_1015t1:c.1993A>G
LRG_1015:g.104211A>G
LRG_1015p1:p.Met665Val
NC_000022.10:g.38511575T>C
NG_007094.2:g.95123A>G
NM_003560.2:c.1993A>G

Protein change:

M433V

Links:

dbSNP: rs1163553928

NCBI 1000 Genomes Browser:

rs1163553928

Molecular consequence:

NM_001004426.3:c.1831A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001199562.3:c.1831A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001349864.2:c.1993A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001349865.2:c.1831A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001349866.2:c.1831A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001349867.2:c.1459A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001349868.2:c.1315A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001349869.2:c.1297A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_003560.4:c.1993A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000596430	Genetic Services Laboratory, University of Chicago	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Oct 19, 2015)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000596430

Genetic Services Laboratory, University of Chicago

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Oct 19, 2015)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	no	not provided	not provided	not provided	not provided	not provided	clinical 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 Genetic Services Laboratory, University of Chicago, SCV000596430.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	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	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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