NM_020631.6(PLEKHG5):c.1598_1612del (p.Gln533_Arg537del) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 1, 2018
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:: RCV000761630.23

Allele description [Variation Report for NM_020631.6(PLEKHG5):c.1598_1612del (p.Gln533_Arg537del)]

NM_020631.6(PLEKHG5):c.1598_1612del (p.Gln533_Arg537del)

Gene:

PLEKHG5:pleckstrin homology and RhoGEF domain containing G5 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

1p36.31

Genomic location:

Preferred name:

NM_020631.6(PLEKHG5):c.1598_1612del (p.Gln533_Arg537del)

HGVS:

NC_000001.11:g.6470585_6470599del
NG_007978.1:g.54422_54436del
NG_029910.1:g.608_622del
NM_001042663.3:c.1709_1723del
NM_001042664.2:c.1587_1601delGCGGCAGCGGCAGGA
NM_001042665.2:c.1587_1601delGCGGCAGCGGCAGGA
NM_001265592.2:c.1709_1723del
NM_001265593.2:c.1794_1808delGCGGCAGCGGCAGGA
NM_001265594.3:c.1587_1601delGCGGCAGCGGCAGGA
NM_020631.6:c.1598_1612delMANE SELECT
NM_198681.4:c.1598_1612del
NP_001036128.2:p.Gln570_Arg574del
NP_001036129.1:p.Gln533_Arg537del
NP_001036129.1:p.Gln533_Arg537del
NP_001036130.1:p.Gln533_Arg537del
NP_001036130.1:p.Gln533_Arg537del
NP_001252521.2:p.Gln570_Arg574del
NP_001252522.1:p.Gln602_Arg606del
NP_001252522.1:p.Gln602_Arg606del
NP_001252523.1:p.Gln533_Arg537del
NP_001252523.1:p.Gln533_Arg537del
NP_065682.2:p.Gln533_Arg537del
NP_065682.2:p.Gln533_Arg537del
NP_941374.3:p.Gln533_Arg537del
LRG_262t1:c.1587_1601del
LRG_262:g.54422_54436del
LRG_262p1:p.Gln533_Arg537del
NC_000001.10:g.6530634_6530648del
NC_000001.10:g.6530645_6530659del
NM_001042664.1:c.1598_1612del
NM_001042665.1:c.1598_1612del
NM_001265593.1:c.1805_1819del
NM_001265594.2:c.1598_1612del
NM_020631.3:c.1587_1601delGCGGCAGCGGCAGGA
NM_020631.4:c.1598_1612del

Links:

dbSNP: rs1557739505

NCBI 1000 Genomes Browser:

rs1557739505

Molecular consequence:

NM_001042663.3:c.1709_1723del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001265592.2:c.1709_1723del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_020631.6:c.1598_1612del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_198681.4:c.1598_1612del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001042664.2:c.1587_1601delGCGGCAGCGGCAGGA - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001042665.2:c.1587_1601delGCGGCAGCGGCAGGA - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001265593.2:c.1794_1808delGCGGCAGCGGCAGGA - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001265594.3:c.1587_1601delGCGGCAGCGGCAGGA - inframe_indel - [Sequence Ontology: SO:0001820]

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
SCV000891800	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Uncertain significance (May 1, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000891800

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

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

Uncertain significance
(May 1, 2018)

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	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV000891800.28

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

Last Updated: Oct 20, 2024

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Relating variation to medicine