NM_003560.4(PLA2G6):c.1547_1548dup (p.Gly517fs) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jan 1, 2020
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:: RCV001092014.21

Allele description [Variation Report for NM_003560.4(PLA2G6):c.1547_1548dup (p.Gly517fs)]

NM_003560.4(PLA2G6):c.1547_1548dup (p.Gly517fs)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

22q13.1

Genomic location:

Preferred name:

NM_003560.4(PLA2G6):c.1547_1548dup (p.Gly517fs)

HGVS:

NC_000022.11:g.38123139_38123140dup
NG_007094.3:g.96640_96641dup
NM_001004426.3:c.1385_1386dup
NM_001199562.3:c.1385_1386dup
NM_001349864.2:c.1547_1548dup
NM_001349865.2:c.1385_1386dup
NM_001349866.2:c.1385_1386dup
NM_001349867.2:c.1013_1014dup
NM_001349868.2:c.869_870dup
NM_001349869.2:c.851_852dup
NM_003560.4:c.1547_1548dupMANE SELECT
NP_001004426.1:p.Gly463fs
NP_001186491.1:p.Gly463fs
NP_001336793.1:p.Gly517fs
NP_001336794.1:p.Gly463fs
NP_001336795.1:p.Gly463fs
NP_001336796.1:p.Gly339fs
NP_001336797.1:p.Gly291fs
NP_001336798.1:p.Gly285fs
NP_003551.2:p.Gly517fs
LRG_1015t1:c.1547_1548dup
LRG_1015:g.96640_96641dup
LRG_1015p1:p.Gly517fs
NC_000022.10:g.38519146_38519147dup
NG_007094.2:g.87552_87553dup
NM_003560.3:c.1548_1549insCG

Protein change:

G285fs

Links:

dbSNP: rs1555988204

NCBI 1000 Genomes Browser:

rs1555988204

Molecular consequence:

NM_001004426.3:c.1385_1386dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001199562.3:c.1385_1386dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001349864.2:c.1547_1548dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001349865.2:c.1385_1386dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001349866.2:c.1385_1386dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001349867.2:c.1013_1014dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001349868.2:c.869_870dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001349869.2:c.851_852dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_003560.4:c.1547_1548dup - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001248343	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Likely pathogenic (Jan 1, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001248343

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Likely pathogenic
(Jan 1, 2020)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	2	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV001248343.25

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	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		2	not provided	not provided	not provided

Last Updated: Oct 8, 2024

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