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NM_005120.3(MED12):c.103_138del (p.Glu35_Asn46del) AND Uterine leiomyoma

Germline classification:
not provided (1 submission)
Review status:
no classification provided
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:
RCV000077819.1

Allele description [Variation Report for NM_005120.3(MED12):c.103_138del (p.Glu35_Asn46del)]

NM_005120.3(MED12):c.103_138del (p.Glu35_Asn46del)

Gene:
MED12:mediator complex subunit 12 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
Xq13.1
Genomic location:
Preferred name:
NM_005120.3(MED12):c.103_138del (p.Glu35_Asn46del)
HGVS:
  • NC_000023.11:g.71119376_71119411del
  • NG_012808.1:g.5821_5856del
  • NM_005120.3:c.103_138delMANE SELECT
  • NP_005111.2:p.Glu35_Asn46del
  • NC_000023.10:g.70339226_70339261del
  • NM_005120.2:c.103_138del36
Links:
dbSNP: rs199469678
NCBI 1000 Genomes Browser:
rs199469678
Molecular consequence:
  • NM_005120.3:c.103_138del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:
Uterine leiomyoma (UL)
Synonyms:
Uterine corpus leiomyoma
Identifiers:
MONDO: MONDO:0007886; MedGen: C0042133; OMIM: 150699; Human Phenotype Ontology: HP:0000131

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000109662Rajkovic Lab, University of Pittsburgh
no classification provided
Associated with leiomyomassomaticnot provided

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticnot providednot providednot providednot provided1not providedliterature only

Details of each submission

From Rajkovic Lab, University of Pittsburgh, SCV000109662.1

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

Description

Converted during submission to not provided.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticnot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Dec 24, 2023