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NM_030973.4(MED25):c.824C>T (p.Pro275Leu) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 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:
RCV003180890.2

Allele description [Variation Report for NM_030973.4(MED25):c.824C>T (p.Pro275Leu)]

NM_030973.4(MED25):c.824C>T (p.Pro275Leu)

Gene:
MED25:mediator complex subunit 25 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.33
Genomic location:
Preferred name:
NM_030973.4(MED25):c.824C>T (p.Pro275Leu)
HGVS:
  • NC_000019.10:g.49830515C>T
  • NG_017091.1:g.17237C>T
  • NM_001378355.1:c.824C>T
  • NM_030973.4:c.824C>TMANE SELECT
  • NP_001365284.1:p.Pro275Leu
  • NP_112235.2:p.Pro275Leu
  • NP_112235.2:p.Pro275Leu
  • LRG_368t1:c.824C>T
  • LRG_368:g.17237C>T
  • LRG_368p1:p.Pro275Leu
  • NC_000019.9:g.50333772C>T
  • NM_030973.3:c.824C>T
Protein change:
P275L
Molecular consequence:
  • NM_001378355.1:c.824C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_030973.4:c.824C>T - 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
SCV003883000Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jan 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, SCV003883000.2

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

Description

The c.824C>T (p.P275L) alteration is located in exon 8 (coding exon 8) of the MED25 gene. This alteration results from a C to T substitution at nucleotide position 824, causing the proline (P) at amino acid position 275 to be replaced by a leucine (L). 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