NM_001303256.3(MORC2):c.704del (p.Pro235fs) AND Charcot-Marie-Tooth disease axonal type 2Z

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 24, 2020
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:: RCV001307684.4

Allele description [Variation Report for NM_001303256.3(MORC2):c.704del (p.Pro235fs)]

NM_001303256.3(MORC2):c.704del (p.Pro235fs)

Gene:

MORC2:MORC family CW-type zinc finger 2 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

22q12.2

Genomic location:

Preferred name:

NM_001303256.3(MORC2):c.704del (p.Pro235fs)

HGVS:

NC_000022.11:g.30941554del
NG_046752.1:g.31945del
NM_001303256.3:c.704delMANE SELECT
NM_001303257.2:c.704del
NM_014941.3:c.518del
NP_001290185.1:p.Pro235fs
NP_001290186.1:p.Pro235fs
NP_055756.1:p.Pro173fs
NC_000022.10:g.31337540del
NC_000022.10:g.31337541del

Protein change:

P173fs

Links:

dbSNP: rs2040742194

NCBI 1000 Genomes Browser:

rs2040742194

Molecular consequence:

NM_001303256.3:c.704del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001303257.2:c.704del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_014941.3:c.518del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV001497105	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Sep 24, 2020)	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

SCV001497105

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Sep 24, 2020)

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):240-242.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Invitae, SCV001497105.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

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 creates a premature translational stop signal (p.Pro235Glnfs*19) in the MORC2 gene. It is expected to result in an absent or disrupted protein product. 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. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in MORC2 cause disease.

#	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: Feb 28, 2024

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