NM_001265594.2(PLEKHG5):c.2737+22_2737+24del AND multiple conditions

Clinical significance:Likely benign (Last evaluated: Nov 20, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001441218.1

Allele description [Variation Report for NM_001265594.2(PLEKHG5):c.2737+22_2737+24del]

NM_001265594.2(PLEKHG5):c.2737+22_2737+24del

Gene:
PLEKHG5:pleckstrin homology and RhoGEF domain containing G5 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1p36.31
Genomic location:
Preferred name:
NM_001265594.2(PLEKHG5):c.2737+22_2737+24del
HGVS:
  • NC_000001.11:g.6468076_6468078del
  • NG_007978.1:g.56933_56935del
  • NG_029910.1:g.3119_3121del
  • NM_001042663.2:c.2927_2929del
  • NM_001042664.1:c.2759_2761del
  • NM_001042665.1:c.2759_2761del
  • NM_001265592.1:c.2996_2998del
  • NM_001265593.1:c.2966_2968del
  • NM_001265594.2:c.2737+22_2737+24del
  • NM_020631.5:c.2759_2761del
  • NM_198681.3:c.2990_2992del
  • NP_001036128.1:p.Pro976del
  • NP_001036129.1:p.Pro920del
  • NP_001036130.1:p.Pro920del
  • NP_001252521.1:p.Pro999del
  • NP_001252522.1:p.Pro989del
  • NP_065682.2:p.Pro920del
  • NP_941374.2:p.Pro997del
  • LRG_262:g.56933_56935del
  • NC_000001.10:g.6528135_6528137del
  • NC_000001.10:g.6528136_6528138del
  • NM_020631.4:c.2759_2761delCTC
Protein change:
P920del
Links:
dbSNP: rs536097668
NCBI 1000 Genomes Browser:
rs536097668
Molecular consequence:
  • NM_001042663.2:c.2927_2929del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001042664.1:c.2759_2761del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001042665.1:c.2759_2761del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001265592.1:c.2996_2998del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001265593.1:c.2966_2968del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_020631.5:c.2759_2761del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_198681.3:c.2990_2992del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001265594.2:c.2737+22_2737+24del - intron variant - [Sequence Ontology: SO:0001627]

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
SCV001644142Invitaecriteria provided, single submitter
Likely benign
(Nov 20, 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, SCV001644142.1

#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: Sep 29, 2021

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