NM_020631.6(PLEKHG5):c.2720T>C (p.Leu907Pro) AND not provided

Clinical significance:Uncertain significance (Last evaluated: May 29, 2020)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:

Allele description [Variation Report for NM_020631.6(PLEKHG5):c.2720T>C (p.Leu907Pro)]

NM_020631.6(PLEKHG5):c.2720T>C (p.Leu907Pro)

PLEKHG5:pleckstrin homology and RhoGEF domain containing G5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
NM_020631.6(PLEKHG5):c.2720T>C (p.Leu907Pro)
  • NC_000001.11:g.6468116A>G
  • NG_007978.1:g.56894T>C
  • NG_029910.1:g.3080T>C
  • NM_001042663.3:c.2831T>C
  • NM_001042664.1:c.2720T>C
  • NM_001042665.1:c.2720T>C
  • NM_001265592.2:c.2831T>C
  • NM_001265593.1:c.2927T>C
  • NM_001265594.2:c.2720T>C
  • NM_020631.6:c.2720T>CMANE SELECT
  • NM_198681.4:c.2720T>C
  • NP_001036128.2:p.Leu944Pro
  • NP_001036129.1:p.Leu907Pro
  • NP_001036130.1:p.Leu907Pro
  • NP_001252521.2:p.Leu944Pro
  • NP_001252522.1:p.Leu976Pro
  • NP_001252523.1:p.Leu907Pro
  • NP_065682.2:p.Leu907Pro
  • NP_941374.3:p.Leu907Pro
  • LRG_262:g.56894T>C
  • NC_000001.10:g.6528176A>G
  • NM_020631.4:c.2720T>C
Protein change:
dbSNP: rs764378556
NCBI 1000 Genomes Browser:
Molecular consequence:
  • NM_001042663.3:c.2831T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042664.1:c.2720T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042665.1:c.2720T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001265592.2:c.2831T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001265593.1:c.2927T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001265594.2:c.2720T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020631.6:c.2720T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198681.4:c.2720T>C - missense variant - [Sequence Ontology: SO:0001583]


MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV000227713EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Uncertain significance
(Apr 15, 2015)
germlineclinical testing

Citation Link,

SCV001813092GeneDxcriteria provided, single submitter
Uncertain significance
(May 29, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000227713.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

From GeneDx, SCV001813092.1

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


Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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

Last Updated: Oct 30, 2021

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