NM_020631.6(PLEKHG5):c.2160G>A (p.Glu720=) AND not provided

Clinical significance:Conflicting interpretations of pathogenicity, Likely benign(1);Uncertain significance(1) (Last evaluated: Aug 1, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000264925.4

Allele description [Variation Report for NM_020631.6(PLEKHG5):c.2160G>A (p.Glu720=)]

NM_020631.6(PLEKHG5):c.2160G>A (p.Glu720=)

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.2160G>A (p.Glu720=)
HGVS:
  • NC_000001.11:g.6469131C>T
  • NG_007978.1:g.55879G>A
  • NG_029910.1:g.2065G>A
  • NM_001042663.3:c.2271G>A
  • NM_001042664.1:c.2160G>A
  • NM_001042665.1:c.2160G>A
  • NM_001265592.2:c.2271G>A
  • NM_001265593.1:c.2367G>A
  • NM_001265594.2:c.2160G>A
  • NM_020631.6:c.2160G>AMANE SELECT
  • NM_198681.4:c.2160G>A
  • NP_001036128.2:p.Glu757=
  • NP_001036129.1:p.Glu720=
  • NP_001036130.1:p.Glu720=
  • NP_001252521.2:p.Glu757=
  • NP_001252522.1:p.Glu789=
  • NP_001252523.1:p.Glu720=
  • NP_065682.2:p.Glu720=
  • NP_941374.3:p.Glu720=
  • LRG_262:g.55879G>A
  • NC_000001.10:g.6529191C>T
  • NM_020631.4:c.2160G>A
Links:
dbSNP: rs867638588
NCBI 1000 Genomes Browser:
rs867638588
Molecular consequence:
  • NM_001042663.3:c.2271G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001042664.1:c.2160G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001042665.1:c.2160G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001265592.2:c.2271G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001265593.1:c.2367G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001265594.2:c.2160G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_020631.6:c.2160G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_198681.4:c.2160G>A - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
4

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000337156EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Uncertain significance
(Jul 26, 2016)
germlineclinical testing

Citation Link,

SCV001961061CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Likely benign
(Aug 1, 2021)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing
not providedgermlineunknown3not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000337156.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided3not providednot providednot provided

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001961061.1

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

Last Updated: Nov 27, 2021

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