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NM_030973.4(MED25):c.569C>T (p.Ala190Val) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 19, 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:
RCV004025924.1

Allele description [Variation Report for NM_030973.4(MED25):c.569C>T (p.Ala190Val)]

NM_030973.4(MED25):c.569C>T (p.Ala190Val)

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.569C>T (p.Ala190Val)
HGVS:
  • NC_000019.10:g.49829829C>T
  • NG_017091.1:g.16551C>T
  • NM_001378355.1:c.569C>T
  • NM_030973.4:c.569C>TMANE SELECT
  • NP_001365284.1:p.Ala190Val
  • NP_112235.2:p.Ala190Val
  • NP_112235.2:p.Ala190Val
  • LRG_368t1:c.569C>T
  • LRG_368:g.16551C>T
  • LRG_368p1:p.Ala190Val
  • NC_000019.9:g.50333086C>T
  • NM_030973.3:c.569C>T
Protein change:
A190V
Links:
dbSNP: rs780526739
NCBI 1000 Genomes Browser:
rs780526739
Molecular consequence:
  • NM_001378355.1:c.569C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_030973.4:c.569C>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
SCV004902587Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 19, 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, SCV004902587.1

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

Description

The c.569C>T (p.A190V) alteration is located in exon 6 (coding exon 6) of the MED25 gene. This alteration results from a C to T substitution at nucleotide position 569, causing the alanine (A) at amino acid position 190 to be replaced by a valine (V). 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: Sep 29, 2024