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NM_181659.3(NCOA3):c.1001G>A (p.Arg334Gln) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 1, 2024
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:
RCV004476527.1

Allele description [Variation Report for NM_181659.3(NCOA3):c.1001G>A (p.Arg334Gln)]

NM_181659.3(NCOA3):c.1001G>A (p.Arg334Gln)

Gene:
NCOA3:nuclear receptor coactivator 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
20q13.12
Genomic location:
Preferred name:
NM_181659.3(NCOA3):c.1001G>A (p.Arg334Gln)
HGVS:
  • NC_000020.11:g.47634084G>A
  • NG_016810.1:g.137228G>A
  • NG_016810.2:g.137199G>A
  • NM_001174087.2:c.1001G>A
  • NM_001174088.2:c.1031G>A
  • NM_006534.4:c.1001G>A
  • NM_181659.3:c.1001G>AMANE SELECT
  • NP_001167558.1:p.Arg334Gln
  • NP_001167559.1:p.Arg344Gln
  • NP_006525.2:p.Arg334Gln
  • NP_858045.1:p.Arg334Gln
  • NC_000020.10:g.46262828G>A
  • NM_181659.2:c.1001G>A
Protein change:
R334Q
Molecular consequence:
  • NM_001174087.2:c.1001G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001174088.2:c.1031G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006534.4:c.1001G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181659.3:c.1001G>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
SCV004973760Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Mar 1, 2024) 		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, SCV004973760.1

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

Description

The c.1001G>A (p.R334Q) alteration is located in exon 10 (coding exon 8) of the NCOA3 gene. This alteration results from a G to A substitution at nucleotide position 1001, causing the arginine (R) at amino acid position 334 to be replaced by a glutamine (Q). 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