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NM_005120.3(MED12):c.3412C>T (p.Arg1138Trp) AND MED12-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 3, 2024
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:
RCV003985512.2

Allele description [Variation Report for NM_005120.3(MED12):c.3412C>T (p.Arg1138Trp)]

NM_005120.3(MED12):c.3412C>T (p.Arg1138Trp)

Gene:
MED12:mediator complex subunit 12 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq13.1
Genomic location:
Preferred name:
NM_005120.3(MED12):c.3412C>T (p.Arg1138Trp)
Other names:
p.R1138W
HGVS:
  • NC_000023.11:g.71128655C>T
  • NG_012808.1:g.15100C>T
  • NM_005120.3:c.3412C>TMANE SELECT
  • NP_005111.2:p.Arg1138Trp
  • NC_000023.10:g.70348505C>T
  • NM_005120.2:c.3412C>T
Protein change:
R1138W
Links:
dbSNP: rs1057523906
NCBI 1000 Genomes Browser:
rs1057523906
Molecular consequence:
  • NM_005120.3:c.3412C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
MED12-related disorder
Synonyms:
MED12-related condition
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002098350Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (NIH), UDN
criteria provided, single submitter

(ACMG Guidelines, 2015)
Pathogenic
(Jul 3, 2024)
unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes11not providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (NIH), UDN, SCV002098350.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not provided1not provided

Last Updated: Nov 10, 2024