NM_020631.5(PLEKHG5):c.1530C>T (p.Ala510=) AND not specified

Clinical significance:Likely benign (Last evaluated: Sep 29, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:

Allele description [Variation Report for NM_020631.5(PLEKHG5):c.1530C>T (p.Ala510=)]

NM_020631.5(PLEKHG5):c.1530C>T (p.Ala510=)

PLEKHG5:pleckstrin homology and RhoGEF domain containing G5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
NM_020631.5(PLEKHG5):c.1530C>T (p.Ala510=)
  • NC_000001.11:g.6470747G>A
  • NG_007978.1:g.54263C>T
  • NG_029910.1:g.449C>T
  • NM_001042663.2:c.1698C>T
  • NM_001042664.1:c.1530C>T
  • NM_001042665.1:c.1530C>T
  • NM_001265592.1:c.1767C>T
  • NM_001265593.1:c.1737C>T
  • NM_001265594.2:c.1530C>T
  • NM_020631.5:c.1530C>T
  • NM_198681.3:c.1761C>T
  • NP_001036128.1:p.Ala566=
  • NP_001036129.1:p.Ala510=
  • NP_001036130.1:p.Ala510=
  • NP_001252521.1:p.Ala589=
  • NP_001252522.1:p.Ala579=
  • NP_001252523.1:p.Ala510=
  • NP_065682.2:p.Ala510=
  • NP_941374.2:p.Ala587=
  • LRG_262:g.54263C>T
  • NC_000001.10:g.6530807G>A
  • NM_020631.4:c.1530C>T
dbSNP: rs61734080
NCBI 1000 Genomes Browser:
Molecular consequence:
  • NM_001042663.2:c.1698C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001042664.1:c.1530C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001042665.1:c.1530C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001265592.1:c.1767C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001265593.1:c.1737C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001265594.2:c.1530C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_020631.5:c.1530C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_198681.3:c.1761C>T - synonymous variant - [Sequence Ontology: SO:0001819]


MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV000532082GeneDxcriteria provided, single submitter
Likely benign
(Sep 29, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000532082.4

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


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.

OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 14, 2021

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