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NM_005120.3(MED12):c.5017AAG[1] (p.Lys1674del) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 5, 2017
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:
RCV000760279.2

Allele description [Variation Report for NM_005120.3(MED12):c.5017AAG[1] (p.Lys1674del)]

NM_005120.3(MED12):c.5017AAG[1] (p.Lys1674del)

Gene:
MED12:mediator complex subunit 12 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
Xq13.1
Genomic location:
Preferred name:
NM_005120.3(MED12):c.5017AAG[1] (p.Lys1674del)
HGVS:
  • NC_000023.11:g.71135245AAG[1]
  • NG_012808.1:g.21690AAG[1]
  • NM_005120.3:c.5017AAG[1]MANE SELECT
  • NP_005111.2:p.Lys1674del
  • NC_000023.10:g.70355095AAG[1]
  • NM_005120.2:c.5020_5022del
Protein change:
K1674del
Links:
Molecular consequence:
  • NM_005120.3:c.5017AAG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:
X-linked intellectual disability with marfanoid habitus
Synonyms:
Mental retardation, X-linked, with marfanoid habitus; Marfanoid habitus, mild general hypotonia, hypernasal voice, normal testicular size and distinct craniofacial anomalies; X-linked mental retardation with marfanoid habitus syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010655; MedGen: C0796022; Orphanet: 776; OMIM: 309520
Name:
FG syndrome 1 (OKS)
Synonyms:
Opitz-Kaveggia syndrome; Mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum; Keller syndrome
Identifiers:
MONDO: MONDO:0010590; MedGen: C5399762; OMIM: 305450
Name:
Blepharophimosis - intellectual disability syndrome, MKB type
Synonyms:
BLEPHAROPHIMOSIS-MENTAL RETARDATION SYNDROME, MAAT-KIEVIT-BRUNNER TYPE; Ohdo syndrome, X-linked
Identifiers:
MONDO: MONDO:0010477; MedGen: C3698541; Orphanet: 293707; OMIM: 300895

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000890119Génétique des Maladies du Développement, Hospices Civils de Lyon
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jul 5, 2017) 		maternalclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyesnot providednot providednot 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 Génétique des Maladies du Développement, Hospices Civils de Lyon, SCV000890119.1

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

Last Updated: Jun 23, 2024