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NM_001303256.3(MORC2):c.2748-6_2748-4del AND Charcot-Marie-Tooth disease axonal type 2Z

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 5, 2021
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:
RCV001897192.5

Allele description

NM_001303256.3(MORC2):c.2748-6_2748-4del

Gene:
MORC2:MORC family CW-type zinc finger 2 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
22q12.2
Genomic location:
Preferred name:
NM_001303256.3(MORC2):c.2748-6_2748-4del
HGVS:
  • NC_000022.11:g.30932456AAG[1]
  • NG_046752.1:g.41037CTT[1]
  • NM_001303256.3:c.2748-6_2748-4delMANE SELECT
  • NM_001303257.2:c.2748-6_2748-4del
  • NM_014941.3:c.2562-6_2562-4del
  • NC_000022.10:g.31328443AAG[1]
  • NC_000022.10:g.31328443_31328445del
Links:
dbSNP: rs1407551364
NCBI 1000 Genomes Browser:
rs1407551364
Molecular consequence:
  • NM_001303256.3:c.2748-6_2748-4del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001303257.2:c.2748-6_2748-4del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_014941.3:c.2562-6_2562-4del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Charcot-Marie-Tooth disease axonal type 2Z
Synonyms:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2Z; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2Z
Identifiers:
MONDO: MONDO:0014736; MedGen: C5569025; OMIM: 616688

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002149088Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Jun 5, 2021) 		germlineclinical testing

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

Help

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. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV002149088.3

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

Description

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. Experimental studies and prediction algorithms are not available or were not evaluated, and the effect of this variant on mRNA splicing is currently unknown. This variant has not been reported in the literature in individuals with MORC2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 23 of the MORC2 gene. It does not directly change the encoded amino acid sequence of the MORC2 protein.

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

Last Updated: Mar 5, 2024