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NM_005121.3(MED13):c.5591G>A (p.Arg1864His) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 23, 2023
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:
RCV004421776.1

Allele description [Variation Report for NM_005121.3(MED13):c.5591G>A (p.Arg1864His)]

NM_005121.3(MED13):c.5591G>A (p.Arg1864His)

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.5591G>A (p.Arg1864His)
HGVS:
  • NC_000017.11:g.61956371C>T
  • NG_046948.1:g.113941G>A
  • NM_005121.3:c.5591G>AMANE SELECT
  • NP_005112.2:p.Arg1864His
  • NC_000017.10:g.60033732C>T
  • NM_005121.2:c.5591G>A
Protein change:
R1864H
Molecular consequence:
  • NM_005121.3:c.5591G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004905318Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 23, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV004905318.1

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

Description

The c.5591G>A (p.R1864H) alteration is located in exon 24 (coding exon 24) of the MED13 gene. This alteration results from a G to A substitution at nucleotide position 5591, causing the arginine (R) at amino acid position 1864 to be replaced by a histidine (H). 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 7, 2024