NM_000044.6(AR):c.1035_1038del (p.Leu347fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 30, 2018
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:: RCV001008798.1

Allele description [Variation Report for NM_000044.6(AR):c.1035_1038del (p.Leu347fs)]

NM_000044.6(AR):c.1035_1038del (p.Leu347fs)

Gene:

AR:androgen receptor [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

Xq12

Genomic location:

Preferred name:

NM_000044.6(AR):c.1035_1038del (p.Leu347fs)

HGVS:

NC_000023.11:g.67546181_67546184del
NG_009014.2:g.7150_7153del
NM_000044.6:c.1035_1038delMANE SELECT
NM_001011645.3:c.-749_-746del
NM_001348061.1:c.1035_1038del
NM_001348063.1:c.1035_1038del
NM_001348064.1:c.1035_1038del
NP_000035.2:p.Leu347fs
NP_001334990.1:p.Leu347fs
NP_001334992.1:p.Leu347fs
NP_001334993.1:p.Leu347fs
LRG_1406t1:c.1035_1038del
LRG_1406:g.7150_7153del
LRG_1406p1:p.Leu347fs
NC_000023.10:g.66766023_66766026del
NM_000044.2:c.1035_1038delGTCT

Protein change:

L347fs

Links:

dbSNP: rs1602144428

NCBI 1000 Genomes Browser:

rs1602144428

Molecular consequence:

NM_001011645.3:c.-749_-746del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_000044.6:c.1035_1038del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001348061.1:c.1035_1038del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001348063.1:c.1035_1038del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001348064.1:c.1035_1038del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Ttll2 tubulin tyrosine ligase-like family, member 2 [Mus musculus]
Ttll2 tubulin tyrosine ligase-like family, member 2 [Mus musculus]
Gene ID:100216474

Gene
100216474[uid] AND (alive[prop]) (1)
Gene
olfactory receptor 906 [Mus musculus]
olfactory receptor 906 [Mus musculus]
gi|116174752|ref|NP_667014.2|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001168596	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Nov 30, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001168596

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Nov 30, 2018)

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	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV001168596.1

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

Description

The c.1035_1038delGTCT variant in the AR gene has been reported previously in a French publication in an individual with complete androgen insensitivity syndrome; please note this variant was reported as c.1029_1032del using alternate nomenclature (Bel Hadj Youssef et al., 2008). The c.1035_1038delGTCT variant causes a frameshift starting with codon Leucine 347, changes this amino acid to a Threonine residue, and creates a premature Stop codon at position 131 of the new reading frame, denoted p.Leu347ThrfsX131. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1035_1038delGTCT variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.1035_1038delGTCT as a pathogenic variant.

#	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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