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NM_000044.6(AR):c.171GCA[22] (p.Gln80del) AND multiple conditions

Germline classification:
Benign (1 submission)
Last evaluated:
May 4, 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:
RCV002497124.3

Allele description [Variation Report for NM_000044.6(AR):c.171GCA[22] (p.Gln80del)]

NM_000044.6(AR):c.171GCA[22] (p.Gln80del)

Genes:
LOC109504725:androgen receptor repeat instability region [Gene]
AR:androgen receptor [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
Xq12
Genomic location:
Preferred name:
NM_000044.6(AR):c.171GCA[22] (p.Gln80del)
HGVS:
  • NC_000023.11:g.67545317GCA[22]
  • NG_009014.2:g.6286GCA[22]
  • NG_052629.1:g.101GCA[22]
  • NM_000044.6:c.171GCA[22]MANE SELECT
  • NM_001011645.3:c.-1613GCA[22]
  • NM_001348061.1:c.171GCA[22]
  • NM_001348063.1:c.171GCA[22]
  • NM_001348064.1:c.171GCA[22]
  • NP_000035.2:p.Gln80del
  • NP_001334990.1:p.Gln80del
  • NP_001334992.1:p.Gln80del
  • NP_001334993.1:p.Gln80del
  • LRG_1406t1:c.171GCA[22]
  • LRG_1406:g.6286GCA[22]
  • LRG_1406p1:p.Gln80del
  • NC_000023.10:g.66765159GCA[22]
  • NM_000044.2:c.237_239delGCA
  • NM_000044.3:c.237_239delGCA
  • NM_000044.6:c.237_239delMANE SELECT
Protein change:
Q80del
Links:
dbSNP: rs3032358
NCBI 1000 Genomes Browser:
rs3032358
Molecular consequence:
  • NM_001011645.3:c.-1613GCA[22] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000044.6:c.171GCA[22] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001348061.1:c.171GCA[22] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001348063.1:c.171GCA[22] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001348064.1:c.171GCA[22] - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:
Androgen resistance syndrome (AIS)
Synonyms:
TESTICULAR FEMINIZATION SYNDROME; Androgen insensitivity syndrome; Androgen receptor deficiency; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0019154; MedGen: C0039585; Orphanet: 99429; OMIM: 300068
Name:
Kennedy disease (SMAX1)
Synonyms:
SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; Bulbo-spinal atrophy X-linked; Kennedy spinal and bulbar muscular atrophy; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010735; MedGen: C1839259; Orphanet: 481; OMIM: 313200
Name:
Partial androgen insensitivity syndrome (PAIS)
Synonyms:
ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER; Gynecomastia, familial; Pseudohermaphroditism, Incomplete male, type I; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010720; MedGen: C0268301; Orphanet: 90797; OMIM: 312300
Name:
Hypospadias 1, X-linked (HYSP1)
Identifiers:
MONDO: MONDO:0010384; MedGen: C2678098; Orphanet: 440; OMIM: 300633
Name:
Malignant tumor of prostate
Synonyms:
Prostate cancer
Identifiers:
MONDO: MONDO:0008315; MedGen: C0376358; Orphanet: 1331; Human Phenotype Ontology: HP:0012125

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002795528Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(May 4, 2022) 		unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Fulgent Genetics, Fulgent Genetics, SCV002795528.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 13, 2024