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NM_000044.6(AR):c.344_345insCAGATGAGGAACAGCA (p.Gln115delinsHisArgTer) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 5, 2023
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:
RCV003815673.2

Allele description [Variation Report for NM_000044.6(AR):c.344_345insCAGATGAGGAACAGCA (p.Gln115delinsHisArgTer)]

NM_000044.6(AR):c.344_345insCAGATGAGGAACAGCA (p.Gln115delinsHisArgTer)

Gene:
AR:androgen receptor [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
Xq12
Genomic location:
Preferred name:
NM_000044.6(AR):c.344_345insCAGATGAGGAACAGCA (p.Gln115delinsHisArgTer)
HGVS:
  • NC_000023.11:g.67545490_67545491insCAGATGAGGAACAGCA
  • NG_009014.2:g.6459_6460insCAGATGAGGAACAGCA
  • NG_052629.1:g.274_275insCAGATGAGGAACAGCA
  • NM_000044.6:c.344_345insCAGATGAGGAACAGCAMANE SELECT
  • NM_001011645.3:c.-1440_-1439insCAGATGAGGAACAGCA
  • NM_001348061.1:c.344_345insCAGATGAGGAACAGCA
  • NM_001348063.1:c.344_345insCAGATGAGGAACAGCA
  • NM_001348064.1:c.344_345insCAGATGAGGAACAGCA
  • NM_001424175.1:c.344_345insCAGATGAGGAACAGCA
  • NP_000035.2:p.Gln115delinsHisArgTer
  • NP_001334990.1:p.Gln115delinsHisArgTer
  • NP_001334992.1:p.Gln115delinsHisArgTer
  • NP_001334993.1:p.Gln115delinsHisArgTer
  • NP_001411104.1:p.Gln115Hisfs
  • LRG_1406t1:c.344_345insCAGATGAGGAACAGCA
  • LRG_1406:g.6459_6460insCAGATGAGGAACAGCA
  • LRG_1406p1:p.Gln115delinsHisArgTer
  • NC_000023.10:g.66765318_66765319insGATGAGGAACAGCACA
  • NC_000023.10:g.66765332_66765333insCAGATGAGGAACAGCA
Molecular consequence:
  • NM_001011645.3:c.-1440_-1439insCAGATGAGGAACAGCA - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001424175.1:c.344_345insCAGATGAGGAACAGCA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_000044.6:c.344_345insCAGATGAGGAACAGCA - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001348061.1:c.344_345insCAGATGAGGAACAGCA - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001348063.1:c.344_345insCAGATGAGGAACAGCA - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001348064.1:c.344_345insCAGATGAGGAACAGCA - nonsense - [Sequence Ontology: SO:0001587]

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004606183Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Oct 5, 2023) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Complete androgen insensitivity syndrome is frequently due to premature stop codons in exon 1 of the androgen receptor gene: an international collaborative report of 13 new mutations.

Philibert P, Audran F, Pienkowski C, Morange I, Kohler B, Flori E, Heinrich C, Dacou-Voutetakis C, Joseph MG, Guedj AM, Journel H, Hecart-Bruna AC, Khotchali I, Ten S, Bouchard P, Paris F, Sultan C.

Fertil Steril. 2010 Jul;94(2):472-6. doi: 10.1016/j.fertnstert.2009.03.057. Epub 2009 May 21.

PubMed [citation]
PMID:
19463997

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004606183.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

This sequence change creates a premature translational stop signal (p.Gln115Hisfs*3) in the AR gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in AR are known to be pathogenic (PMID: 19463997). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with AR-related conditions. For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Sep 29, 2024