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NM_020631.6(PLEKHG5):c.1575G>C (p.Val525=) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jul 11, 2019
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:
RCV002397248.2

Allele description [Variation Report for NM_020631.6(PLEKHG5):c.1575G>C (p.Val525=)]

NM_020631.6(PLEKHG5):c.1575G>C (p.Val525=)

Gene:
PLEKHG5:pleckstrin homology and RhoGEF domain containing G5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.31
Genomic location:
Preferred name:
NM_020631.6(PLEKHG5):c.1575G>C (p.Val525=)
HGVS:
  • NC_000001.11:g.6470611C>G
  • NG_007978.1:g.54399G>C
  • NG_029910.1:g.585G>C
  • NM_001042663.3:c.1686G>C
  • NM_001042664.2:c.1575G>C
  • NM_001042665.2:c.1575G>C
  • NM_001265592.2:c.1686G>C
  • NM_001265593.2:c.1782G>C
  • NM_001265594.3:c.1575G>C
  • NM_020631.6:c.1575G>CMANE SELECT
  • NM_198681.4:c.1575G>C
  • NP_001036128.2:p.Val562=
  • NP_001036129.1:p.Val525=
  • NP_001036130.1:p.Val525=
  • NP_001252521.2:p.Val562=
  • NP_001252522.1:p.Val594=
  • NP_001252523.1:p.Val525=
  • NP_065682.2:p.Val525=
  • NP_065682.2:p.Val525=
  • NP_941374.3:p.Val525=
  • LRG_262t1:c.1575G>C
  • LRG_262:g.54399G>C
  • LRG_262p1:p.Val525=
  • NC_000001.10:g.6530671C>G
  • NM_020631.3:c.1575G>C
  • NM_020631.4:c.1575G>C
Links:
dbSNP: rs1488054852
NCBI 1000 Genomes Browser:
rs1488054852
Molecular consequence:
  • NM_001042663.3:c.1686G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001042664.2:c.1575G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001042665.2:c.1575G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001265592.2:c.1686G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001265593.2:c.1782G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001265594.3:c.1575G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_020631.6:c.1575G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_198681.4:c.1575G>C - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002710052Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Jul 11, 2019) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV002710052.2

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Sep 29, 2024