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NM_181659.3(NCOA3):c.476A>G (p.Asn159Ser) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Apr 28, 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:
RCV004136961.1

Allele description [Variation Report for NM_181659.3(NCOA3):c.476A>G (p.Asn159Ser)]

NM_181659.3(NCOA3):c.476A>G (p.Asn159Ser)

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.476A>G (p.Asn159Ser)
HGVS:
  • NC_000020.11:g.47627120A>G
  • NG_016810.1:g.130264A>G
  • NG_016810.2:g.130235A>G
  • NM_001174087.2:c.476A>G
  • NM_001174088.2:c.476A>G
  • NM_006534.4:c.476A>G
  • NM_181659.3:c.476A>GMANE SELECT
  • NP_001167558.1:p.Asn159Ser
  • NP_001167559.1:p.Asn159Ser
  • NP_006525.2:p.Asn159Ser
  • NP_858045.1:p.Asn159Ser
  • NC_000020.10:g.46255864A>G
  • NM_181659.2:c.476A>G
Protein change:
N159S
Molecular consequence:
  • NM_001174087.2:c.476A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001174088.2:c.476A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006534.4:c.476A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181659.3:c.476A>G - 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
SCV003617549Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Apr 28, 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, SCV003617549.2

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2024