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 [Variation Report for NM_001303256.3(MORC2):c.2748-6_2748-4del]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002149088	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jun 5, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002149088

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jun 5, 2021)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical 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.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Mar 5, 2024

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