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NM_000044.6(AR):c.1139C>G (p.Pro380Arg) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 27, 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:
RCV001865599.3

Allele description [Variation Report for NM_000044.6(AR):c.1139C>G (p.Pro380Arg)]

NM_000044.6(AR):c.1139C>G (p.Pro380Arg)

Gene:
AR:androgen receptor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq12
Genomic location:
Preferred name:
NM_000044.6(AR):c.1139C>G (p.Pro380Arg)
HGVS:
  • NC_000023.11:g.67546285C>G
  • NG_009014.2:g.7254C>G
  • NM_000044.6:c.1139C>GMANE SELECT
  • NM_001011645.3:c.-645C>G
  • NM_001348061.1:c.1139C>G
  • NM_001348063.1:c.1139C>G
  • NM_001348064.1:c.1139C>G
  • NP_000035.2:p.Pro380Arg
  • NP_001334990.1:p.Pro380Arg
  • NP_001334992.1:p.Pro380Arg
  • NP_001334993.1:p.Pro380Arg
  • LRG_1406t1:c.1139C>G
  • LRG_1406:g.7254C>G
  • LRG_1406p1:p.Pro380Arg
  • NC_000023.10:g.66766127C>G
  • NM_000044.2:c.1139C>G
  • NM_000044.3:c.1139C>G
Protein change:
P380R
Links:
dbSNP: rs200510049
NCBI 1000 Genomes Browser:
rs200510049
Molecular consequence:
  • NM_001011645.3:c.-645C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000044.6:c.1139C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001348061.1:c.1139C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001348063.1:c.1139C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001348064.1:c.1139C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002107199GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Sep 27, 2021) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV002107199.2

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

Description

Published functional studies demonstrate reduced DHT-induced transactivation (Tadokoro-Cuccaro et al., 2014); Reported in individuals with partial androgen insensitivity syndrome (Audi et al., 2010; Bermejo-Costa et al., 2015); Missense variants in this gene are often considered pathogenic (HGMD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 25500996, 20150575, 26242926)

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

Last Updated: Oct 8, 2024