U.S. flag

An official website of the United States government

NM_005121.3(MED13):c.6240G>C (p.Trp2080Cys) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 26, 2022
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:
RCV002830250.2

Allele description [Variation Report for NM_005121.3(MED13):c.6240G>C (p.Trp2080Cys)]

NM_005121.3(MED13):c.6240G>C (p.Trp2080Cys)

Gene:
MED13:mediator complex subunit 13 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q23.2
Genomic location:
Preferred name:
NM_005121.3(MED13):c.6240G>C (p.Trp2080Cys)
HGVS:
  • NC_000017.11:g.61950876C>G
  • NG_046948.1:g.119436G>C
  • NM_005121.3:c.6240G>CMANE SELECT
  • NP_005112.2:p.Trp2080Cys
  • NC_000017.10:g.60028237C>G
  • NM_005121.2:c.6240G>C
Protein change:
W2080C
Molecular consequence:
  • NM_005121.3:c.6240G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003602219Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jan 26, 2022) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003602219.2

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

Description

The c.6240G>C (p.W2080C) alteration is located in exon 28 (coding exon 28) of the MED13 gene. This alteration results from a G to C substitution at nucleotide position 6240, causing the tryptophan (W) at amino acid position 2080 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: May 1, 2024