NM_020631.6(PLEKHG5):c.2145GGA[7] (p.Glu723del) AND multiple conditions

Clinical significance:Benign (Last evaluated: Dec 8, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001510604.1

Allele description [Variation Report for NM_020631.6(PLEKHG5):c.2145GGA[7] (p.Glu723del)]

NM_020631.6(PLEKHG5):c.2145GGA[7] (p.Glu723del)

Gene:
PLEKHG5:pleckstrin homology and RhoGEF domain containing G5 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
1p36.31
Genomic location:
Preferred name:
NM_020631.6(PLEKHG5):c.2145GGA[7] (p.Glu723del)
HGVS:
  • NC_000001.11:g.6469125CTC[7]
  • NG_007978.1:g.55864GGA[7]
  • NG_029910.1:g.2050GGA[7]
  • NM_001042663.3:c.2256GGA[7]
  • NM_001042664.1:c.2145GGA[7]
  • NM_001042665.1:c.2145GGA[7]
  • NM_001265592.2:c.2256GGA[7]
  • NM_001265593.1:c.2352GGA[7]
  • NM_001265594.2:c.2145GGA[7]
  • NM_020631.6:c.2145GGA[7]MANE SELECT
  • NM_198681.4:c.2145GGA[7]
  • NP_001036128.2:p.Glu760del
  • NP_001036129.1:p.Glu723del
  • NP_001036130.1:p.Glu723del
  • NP_001252521.2:p.Glu760del
  • NP_001252522.1:p.Glu792del
  • NP_001252523.1:p.Glu723del
  • NP_065682.2:p.Glu723del
  • NP_941374.3:p.Glu723del
  • LRG_262:g.55864GGA[7]
  • NC_000001.10:g.6529183_6529185del
  • NC_000001.10:g.6529185CTC[7]
  • NM_020631.4:c.2166_2168del
  • NM_020631.4:c.2166_2168delGGA
Protein change:
E723del
Links:
dbSNP: rs113541584
NCBI 1000 Genomes Browser:
rs113541584
Molecular consequence:
  • NM_001042663.3:c.2256GGA[7] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001042664.1:c.2145GGA[7] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001042665.1:c.2145GGA[7] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001265592.2:c.2256GGA[7] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001265593.1:c.2352GGA[7] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001265594.2:c.2145GGA[7] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_020631.6:c.2145GGA[7] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_198681.4:c.2145GGA[7] - 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
SCV001717691Invitaecriteria provided, single submitter
Benign
(Dec 8, 2020)
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, SCV001717691.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 6, 2021

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