NM_000044.6(AR):c.1103del (p.Pro368fs) AND AR-related disorder

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Sep 6, 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:: RCV003402554.4

Allele description [Variation Report for NM_000044.6(AR):c.1103del (p.Pro368fs)]

NM_000044.6(AR):c.1103del (p.Pro368fs)

Gene:

AR:androgen receptor [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

Xq12

Genomic location:

Preferred name:

NM_000044.6(AR):c.1103del (p.Pro368fs)

HGVS:

NC_000023.11:g.67546249del
NG_009014.2:g.7218del
NM_000044.6:c.1103delMANE SELECT
NM_001011645.3:c.-681del
NM_001348061.1:c.1103del
NM_001348063.1:c.1103del
NM_001348064.1:c.1103del
NM_001424175.1:c.1103delC
NP_000035.2:p.Pro368fs
NP_001334990.1:p.Pro368fs
NP_001334992.1:p.Pro368fs
NP_001334993.1:p.Pro368fs
NP_001411104.1:p.Pro368Hisfs
LRG_1406t1:c.1103del
LRG_1406:g.7218del
LRG_1406p1:p.Pro368fs
NC_000023.10:g.66766091del
NM_000044.3:c.1103delC

Protein change:

P368fs

Molecular consequence:

NM_001011645.3:c.-681del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_000044.6:c.1103del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001348061.1:c.1103del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001348063.1:c.1103del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001348064.1:c.1103del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001424175.1:c.1103delC - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: AR-related disorder
Synonyms:: AR-related condition
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004102986	PreventionGenetics, part of Exact Sciences	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Sep 6, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004102986

PreventionGenetics, part of Exact Sciences

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Sep 6, 2023)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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 PreventionGenetics, part of Exact Sciences, SCV004102986.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

The AR c.1103delC variant is predicted to result in a frameshift and premature protein termination (p.Pro368Hisfs*111). To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Frameshift variants in AR are expected to be pathogenic. This variant is interpreted as likely pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 26, 2024

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