NM_005120.2(MED12):c.93G>C (p.Gln31His) AND not provided

Clinical significance:Likely pathogenic (Last evaluated: Mar 10, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000433847.1

Allele description

NM_005120.2(MED12):c.93G>C (p.Gln31His)

Gene:
MED12:mediator complex subunit 12 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq13.1
Genomic location:
Preferred name:
NM_005120.2(MED12):c.93G>C (p.Gln31His)
HGVS:
  • NC_000023.11:g.71118847G>C
  • NG_012808.1:g.5292G>C
  • NM_005120.2:c.93G>C
  • NP_005111.2:p.Gln31His
  • NC_000023.10:g.70338697G>C
Protein change:
Q31H
Molecular consequence:
  • NM_005120.2:c.93G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN221809

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000525421GeneDxcriteria provided, single submitter
Likely pathogenic
(Mar 10, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000525421.1

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

Description

The Q31H variant in the MED12 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The Q31H variant was not observed in approximately 5800 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The Q31H variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret Q31H as strong candidate for a pathogenic variant; however, the possibility that Q31H may be a rare benign variant cannot be excluded.

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

Last Updated: Mar 7, 2017

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