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NM_001303256.3(MORC2):c.489G>T (p.Glu163Asp) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Apr 6, 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:
RCV002330968.2

Allele description [Variation Report for NM_001303256.3(MORC2):c.489G>T (p.Glu163Asp)]

NM_001303256.3(MORC2):c.489G>T (p.Glu163Asp)

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.489G>T (p.Glu163Asp)
HGVS:
  • NC_000022.11:g.30942209C>A
  • NG_046752.1:g.31289G>T
  • NM_001303256.3:c.489G>TMANE SELECT
  • NM_001303257.2:c.489G>T
  • NM_014941.3:c.303G>T
  • NP_001290185.1:p.Glu163Asp
  • NP_001290186.1:p.Glu163Asp
  • NP_055756.1:p.Glu101Asp
  • NC_000022.10:g.31338196C>A
  • NM_001303256.2:c.489G>T
  • NM_014941.2:c.303G>T
Protein change:
E101D
Links:
dbSNP: rs186458188
NCBI 1000 Genomes Browser:
rs186458188
Molecular consequence:
  • NM_001303256.3:c.489G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001303257.2:c.489G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014941.3:c.303G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002634568Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Apr 6, 2020) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002634568.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Feb 25, 2025