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NM_006917.5(RXRG):c.346C>A (p.Pro116Thr) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 6, 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:
RCV004236937.1

Allele description [Variation Report for NM_006917.5(RXRG):c.346C>A (p.Pro116Thr)]

NM_006917.5(RXRG):c.346C>A (p.Pro116Thr)

Gene:
RXRG:retinoid X receptor gamma [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q23.3
Genomic location:
Preferred name:
NM_006917.5(RXRG):c.346C>A (p.Pro116Thr)
HGVS:
  • NC_000001.11:g.165419966G>T
  • NG_029517.2:g.30390C>A
  • NM_001256570.2:c.-24C>A
  • NM_001256571.2:c.-24C>A
  • NM_006917.5:c.346C>AMANE SELECT
  • NP_008848.1:p.Pro116Thr
  • NC_000001.10:g.165389203G>T
  • NM_006917.4:c.346C>A
Protein change:
P116T
Molecular consequence:
  • NM_001256570.2:c.-24C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001256571.2:c.-24C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_006917.5:c.346C>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
SCV003754155Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 6, 2022) 		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, SCV003754155.2

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

Description

The c.346C>A (p.P116T) alteration is located in exon 3 (coding exon 3) of the RXRG gene. This alteration results from a C to A substitution at nucleotide position 346, causing the proline (P) at amino acid position 116 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: Oct 26, 2024