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NM_020631.6(PLEKHG5):c.1639G>A (p.Ala547Thr) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 27, 2023
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:
RCV003220054.2

Allele description [Variation Report for NM_020631.6(PLEKHG5):c.1639G>A (p.Ala547Thr)]

NM_020631.6(PLEKHG5):c.1639G>A (p.Ala547Thr)

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.1639G>A (p.Ala547Thr)
HGVS:
  • NC_000001.11:g.6470547C>T
  • NG_007978.1:g.54463G>A
  • NG_029910.1:g.649G>A
  • NM_001042663.3:c.1750G>A
  • NM_001042664.2:c.1639G>A
  • NM_001042665.2:c.1639G>A
  • NM_001265592.2:c.1750G>A
  • NM_001265593.2:c.1846G>A
  • NM_001265594.3:c.1639G>A
  • NM_020631.6:c.1639G>AMANE SELECT
  • NM_198681.4:c.1639G>A
  • NP_001036128.2:p.Ala584Thr
  • NP_001036129.1:p.Ala547Thr
  • NP_001036130.1:p.Ala547Thr
  • NP_001252521.2:p.Ala584Thr
  • NP_001252522.1:p.Ala616Thr
  • NP_001252523.1:p.Ala547Thr
  • NP_065682.2:p.Ala547Thr
  • NP_065682.2:p.Ala547Thr
  • NP_941374.3:p.Ala547Thr
  • LRG_262t1:c.1639G>A
  • LRG_262:g.54463G>A
  • LRG_262p1:p.Ala547Thr
  • NC_000001.10:g.6530607C>T
  • NM_020631.3:c.1639G>A
Protein change:
A547T
Molecular consequence:
  • NM_001042663.3:c.1750G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042664.2:c.1639G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042665.2:c.1639G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001265592.2:c.1750G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001265593.2:c.1846G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001265594.3:c.1639G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020631.6:c.1639G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198681.4:c.1639G>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV003908741Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Feb 27, 2023) 		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, SCV003908741.2

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

Description

The c.1639G>A (p.A547T) alteration is located in exon 15 (coding exon 14) of the PLEKHG5 gene. This alteration results from a G to A substitution at nucleotide position 1639, causing the alanine (A) at amino acid position 547 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: May 1, 2024