NM_000044.6(AR):c.1368_1376dup (p.Gly473_Glu474insGlyGlyGly) AND not provided

Germline classification:: Likely benign (1 submission)
Last evaluated:: Feb 1, 2024
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:: RCV003884858.3

Allele description [Variation Report for NM_000044.6(AR):c.1368_1376dup (p.Gly473_Glu474insGlyGlyGly)]

NM_000044.6(AR):c.1368_1376dup (p.Gly473_Glu474insGlyGlyGly)

Gene:

AR:androgen receptor [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

Xq12

Genomic location:

Preferred name:

NM_000044.6(AR):c.1368_1376dup (p.Gly473_Glu474insGlyGlyGly)

HGVS:

NC_000023.11:g.67546514_67546522dup
NG_009014.2:g.7483_7491dup
NM_000044.3:c.1368_1376dup9
NM_000044.6:c.1368_1376dupMANE SELECT
NM_001011645.3:c.-416_-408dup
NM_001348061.1:c.1368_1376dup
NM_001348063.1:c.1368_1376dup
NM_001348064.1:c.1368_1376dup
NM_001424175.1:c.1368_1376dup
NP_000035.2:p.Gly473_Glu474insGlyGlyGly
NP_001334990.1:p.Gly473_Glu474insGlyGlyGly
NP_001334992.1:p.Gly473_Glu474insGlyGlyGly
NP_001334993.1:p.Gly473_Glu474insGlyGlyGly
NP_001411104.1:p.Gly474_Glu475insGlyGlyGly
LRG_1406t1:c.1368_1376dup
LRG_1406:g.7483_7491dup
LRG_1406p1:p.Gly473_Glu474insGlyGlyGly
NC_000023.10:g.66766356_66766364dup

Molecular consequence:

NM_001011645.3:c.-416_-408dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001424175.1:c.1368_1376dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_000044.6:c.1368_1376dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001348061.1:c.1368_1376dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001348063.1:c.1368_1376dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001348064.1:c.1368_1376dup - inframe_insertion - [Sequence Ontology: SO:0001821]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004701886	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Likely benign (Feb 1, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004701886

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Likely benign
(Feb 1, 2024)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV004701886.3

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

Description

AR: BS2

#	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		1	not provided	not provided	not provided

Last Updated: May 26, 2024

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Relating variation to medicine