NM_000044.6(AR):c.1952del (p.Ser651fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 21, 2015
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:: RCV000482936.1

Allele description [Variation Report for NM_000044.6(AR):c.1952del (p.Ser651fs)]

NM_000044.6(AR):c.1952del (p.Ser651fs)

Gene:

AR:androgen receptor [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

Xq12

Genomic location:

Preferred name:

NM_000044.6(AR):c.1952del (p.Ser651fs)

HGVS:

NC_000023.11:g.67711468del
NG_009014.2:g.172437del
NM_000044.6:c.1952delMANE SELECT
NM_001011645.3:c.356del
NP_000035.2:p.Ser651fs
NP_001011645.1:p.Ser119fs
LRG_1406t1:c.1952del
LRG_1406:g.172437del
LRG_1406p1:p.Ser651fs
NC_000023.10:g.66931310del
NM_000044.2:c.1952delG

Protein change:

S119fs

Links:

dbSNP: rs1064793645

NCBI 1000 Genomes Browser:

rs1064793645

Molecular consequence:

NM_000044.6:c.1952del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001011645.3:c.356del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

Recent activity

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Mus musculus bactericidal permeablility increasing protein (Bpi), mRNA
Mus musculus bactericidal permeablility increasing protein (Bpi), mRNA
gi|31342851|ref|NM_177850.2|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000566676	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (May 21, 2015)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000566676

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(May 21, 2015)

germline

clinical testing

Citation Link

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000566676.4

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

Description

The c.1952delG deletion in the AR gene is predicted to cause loss of normal protein functioneither through protein truncation or nonsense-mediated mRNA decay. Although this variant has not beenpreviously reported to our knowledge, we interpret it as pathogenic.

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

Last Updated: Apr 23, 2022

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