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NM_001303256.3(MORC2):c.328C>T (p.Arg110Cys) AND Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 9, 2022
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:
RCV002468630.5

Allele description [Variation Report for NM_001303256.3(MORC2):c.328C>T (p.Arg110Cys)]

NM_001303256.3(MORC2):c.328C>T (p.Arg110Cys)

Gene:
MORC2:MORC family CW-type zinc finger 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
22q12.2
Genomic location:
Preferred name:
NM_001303256.3(MORC2):c.328C>T (p.Arg110Cys)
HGVS:
  • NC_000022.11:g.30946439G>A
  • NG_046752.1:g.27059C>T
  • NM_001303256.3:c.328C>TMANE SELECT
  • NM_001303257.2:c.328C>T
  • NM_014941.3:c.142C>T
  • NP_001290185.1:p.Arg110Cys
  • NP_001290186.1:p.Arg110Cys
  • NP_055756.1:p.Arg48Cys
  • NC_000022.10:g.31342426G>A
  • NM_001303256.1:c.328C>T
  • NM_001303256.2:c.328C>T
Protein change:
R110C
Links:
dbSNP: rs2040817364
NCBI 1000 Genomes Browser:
rs2040817364
Molecular consequence:
  • NM_001303256.3:c.328C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001303257.2:c.328C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014941.3:c.142C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy
Identifiers:
MONDO: MONDO:0030835; MedGen: C5436781; OMIM: 619090

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002764793Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
criteria provided, single submitter

(Classification criteria August 2017)		Likely pathogenic
(May 9, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München, SCV002764793.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 8, 2024