NM_020631.6(PLEKHG5):c.2131C>G (p.Gln711Glu) AND not provided

Clinical significance:Uncertain significance (Last evaluated: May 10, 2018)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000585593.3

Allele description [Variation Report for NM_020631.6(PLEKHG5):c.2131C>G (p.Gln711Glu)]

NM_020631.6(PLEKHG5):c.2131C>G (p.Gln711Glu)

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.2131C>G (p.Gln711Glu)
HGVS:
  • NC_000001.11:g.6469160G>C
  • NG_007978.1:g.55850C>G
  • NG_029910.1:g.2036C>G
  • NM_001042663.3:c.2242C>G
  • NM_001042664.1:c.2131C>G
  • NM_001042665.1:c.2131C>G
  • NM_001265592.2:c.2242C>G
  • NM_001265593.1:c.2338C>G
  • NM_001265594.2:c.2131C>G
  • NM_020631.6:c.2131C>GMANE SELECT
  • NM_198681.4:c.2131C>G
  • NP_001036128.2:p.Gln748Glu
  • NP_001036129.1:p.Gln711Glu
  • NP_001036130.1:p.Gln711Glu
  • NP_001252521.2:p.Gln748Glu
  • NP_001252522.1:p.Gln780Glu
  • NP_001252523.1:p.Gln711Glu
  • NP_065682.2:p.Gln711Glu
  • NP_941374.3:p.Gln711Glu
  • LRG_262:g.55850C>G
  • NC_000001.10:g.6529220G>C
  • NM_020631.4:c.2131C>G
Protein change:
Q711E
Links:
dbSNP: rs761272621
NCBI 1000 Genomes Browser:
rs761272621
Molecular consequence:
  • NM_001042663.3:c.2242C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042664.1:c.2131C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042665.1:c.2131C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001265592.2:c.2242C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001265593.1:c.2338C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001265594.2:c.2131C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020631.6:c.2131C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198681.4:c.2131C>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000692599CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Uncertain significance
(Oct 1, 2017)
germlineclinical testing

Citation Link,

SCV000779620GeneDxcriteria provided, single submitter
Uncertain significance
(May 10, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV000692599.10

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

From GeneDx, SCV000779620.2

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

Description

The Q711E variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The Q711E variant is not observed in large population cohorts (Lek et al., 2016). This variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. However, in-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function.

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

Last Updated: Nov 27, 2021

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