NM_005120.3(MED12):c.130G>A (p.Gly44Ser) 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:: RCV000077836.1

Allele description [Variation Report for NM_005120.3(MED12):c.130G>A (p.Gly44Ser)]

NM_005120.3(MED12):c.130G>A (p.Gly44Ser)

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.130G>A (p.Gly44Ser)

HGVS:

NC_000023.11:g.71119403G>A
NG_012808.1:g.5848G>A
NM_005120.3:c.130G>AMANE SELECT
NP_005111.2:p.Gly44Ser
NC_000023.10:g.70339253G>A
NM_005120.2:c.130G>A
p.G44S

Protein change:

G44S

Links:

dbSNP: rs199469669

NCBI 1000 Genomes Browser:

rs199469669

Molecular consequence:

NM_005120.3:c.130G>A - missense variant - [Sequence Ontology: SO:0001583]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000109679	Rajkovic Lab, University of Pittsburgh	no classification provided	Associated with leiomyomas	somatic	not provided

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000109679

Rajkovic Lab, University of Pittsburgh

no classification provided

Associated with leiomyomas

somatic

not provided

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	somatic	not provided	not provided	not provided	not provided	9	not provided	literature only

Details of each submission

From Rajkovic Lab, University of Pittsburgh, SCV000109679.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	not provided	not provided

Description

Converted during submission to not provided.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	somatic	not provided	9	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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