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NM_175747.2(OLIG3):c.547C>A (p.Pro183Thr) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 7, 2021
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:
RCV004122590.1

Allele description [Variation Report for NM_175747.2(OLIG3):c.547C>A (p.Pro183Thr)]

NM_175747.2(OLIG3):c.547C>A (p.Pro183Thr)

Gene:
OLIG3:oligodendrocyte transcription factor 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6q23.3
Genomic location:
Preferred name:
NM_175747.2(OLIG3):c.547C>A (p.Pro183Thr)
HGVS:
  • NC_000006.12:g.137493624G>T
  • NG_109290.1:g.421G>T
  • NM_175747.2:c.547C>AMANE SELECT
  • NP_786923.1:p.Pro183Thr
  • NC_000006.11:g.137814761G>T
Protein change:
P183T
Molecular consequence:
  • NM_175747.2:c.547C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003595400Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 7, 2021) 		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, SCV003595400.2

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

Description

The c.547C>A (p.P183T) alteration is located in exon 1 (coding exon 1) of the OLIG3 gene. This alteration results from a C to A substitution at nucleotide position 547, causing the proline (P) at amino acid position 183 to be replaced by a threonine (T). 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: Nov 10, 2024