NM_020631.6(PLEKHG5):c.1598_1612del (p.Gln533_Arg537del) AND multiple conditions

Clinical significance:Uncertain significance (Last evaluated: Dec 24, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000823148.1

Allele description [Variation Report for NM_020631.6(PLEKHG5):c.1598_1612del (p.Gln533_Arg537del)]

NM_020631.6(PLEKHG5):c.1598_1612del (p.Gln533_Arg537del)

Gene:
PLEKHG5:pleckstrin homology and RhoGEF domain containing G5 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1p36.31
Genomic location:
Preferred name:
NM_020631.6(PLEKHG5):c.1598_1612del (p.Gln533_Arg537del)
HGVS:
  • NC_000001.11:g.6470585_6470599del
  • NG_007978.1:g.54422_54436del
  • NG_029910.1:g.608_622del
  • NM_001042663.3:c.1709_1723del
  • NM_001042664.1:c.1598_1612del
  • NM_001042665.1:c.1598_1612del
  • NM_001265592.2:c.1709_1723del
  • NM_001265593.1:c.1805_1819del
  • NM_001265594.2:c.1598_1612del
  • NM_020631.6:c.1598_1612delMANE SELECT
  • NM_198681.4:c.1598_1612del
  • NP_001036128.2:p.Gln570_Arg574del
  • NP_001036129.1:p.Gln533_Arg537del
  • NP_001036130.1:p.Gln533_Arg537del
  • NP_001252521.2:p.Gln570_Arg574del
  • NP_001252522.1:p.Gln602_Arg606del
  • NP_001252523.1:p.Gln533_Arg537del
  • NP_065682.2:p.Gln533_Arg537del
  • NP_941374.3:p.Gln533_Arg537del
  • LRG_262:g.54422_54436del
  • NC_000001.10:g.6530645_6530659del
  • NM_020631.4:c.1598_1612del
Links:
dbSNP: rs1557739505
NCBI 1000 Genomes Browser:
rs1557739505
Molecular consequence:
  • NM_001042663.3:c.1709_1723del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001042664.1:c.1598_1612del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001042665.1:c.1598_1612del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001265592.2:c.1709_1723del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001265593.1:c.1805_1819del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001265594.2:c.1598_1612del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_020631.6:c.1598_1612del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_198681.4:c.1598_1612del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:
Distal spinal muscular atrophy, autosomal recessive 4 (DSMA4)
Identifiers:
MONDO: MONDO:0012608; MedGen: C1970211; Orphanet: 206580; OMIM: 611067
Name:
Charcot-Marie-Tooth disease, recessive intermediate c (CMTRIC)
Synonyms:
CHARCOT-MARIE-TOOTH NEUROPATHY, RECESSIVE INTERMEDIATE C
Identifiers:
MONDO: MONDO:0014154; MedGen: C3809309; Orphanet: 369867; OMIM: 615376

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000963996Invitaecriteria provided, single submitter
Uncertain significance
(Dec 24, 2018)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV000963996.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This variant, c.1598_1612del, results in the deletion of 5 amino acid(s) of the PLEKHG5 protein (p.Gln533_Arg537del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PLEKHG5-related conditions. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: Nov 27, 2021

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