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NM_001303256.3(MORC2):c.71C>T (p.Thr24Ile) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Oct 14, 2019
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:
RCV000991193.1

Allele description [Variation Report for NM_001303256.3(MORC2):c.71C>T (p.Thr24Ile)]

NM_001303256.3(MORC2):c.71C>T (p.Thr24Ile)

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.71C>T (p.Thr24Ile)
HGVS:
  • NC_000022.11:g.30958692G>A
  • NG_046752.1:g.14806C>T
  • NM_001303256.3:c.71C>TMANE SELECT
  • NM_001303257.2:c.71C>T
  • NM_014941.3:c.-116C>T
  • NP_001290185.1:p.Thr24Ile
  • NP_001290186.1:p.Thr24Ile
  • NC_000022.10:g.31354678G>A
  • NM_001303256.1:c.71C>T
  • NM_001303256.2:c.71C>T
Protein change:
T24I; THR24ILE
Links:
OMIM: 616661.0005; dbSNP: rs1602510214
NCBI 1000 Genomes Browser:
rs1602510214
Molecular consequence:
  • NM_014941.3:c.-116C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001303256.3:c.71C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001303257.2:c.71C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001134972GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely pathogenic
(Oct 14, 2019) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV001134972.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providedclinical testingnot provided

Description

The T24I variant in the MORC2 gene has been observed as a de novo variant in internal GeneDx whole exome sequencing data in association with developmental delay, hearing loss, short stature, microcephaly, muscle weakness, abnormal muscle tone, brain abnormalities, and dysmorphic features. The T24I variant is not observed in large population cohorts (Lek et al., 2016). In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect. Therefore, we interpret T24I as a likely pathogenic variant.

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

Last Updated: Mar 22, 2025