NM_007298.4(BRCA1):c.1049-3_1172del AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 2, 2019
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:: RCV002478522.8

Allele description [Variation Report for NM_007298.4(BRCA1):c.1049-3_1172del]

NM_007298.4(BRCA1):c.1049-3_1172del

Gene:

BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_007298.4(BRCA1):c.1049-3_1172del

HGVS:

NC_000017.11:g.43076492_43076618del
NG_005905.2:g.141370_141496del
NM_001407583.1:c.4424-3_4547del
NM_001407585.1:c.4424-3_4547del
NM_001407590.1:c.4421-3_4544del
NM_001407591.1:c.4421-3_4544del
NM_001407616.1:c.4358-3_4481del
NM_001407617.1:c.4358-3_4481del
NM_001407618.1:c.4358-3_4481del
NM_001407619.1:c.4358-3_4481del
NM_001407620.1:c.4358-3_4481del
NM_001407621.1:c.4358-3_4481del
NM_001407622.1:c.4358-3_4481del
NM_001407623.1:c.4358-3_4481del
NM_001407633.1:c.4355-3_4478del
NM_001407634.1:c.4355-3_4478del
NM_001407635.1:c.4355-3_4478del
NM_001407636.1:c.4355-3_4478del
NM_001407637.1:c.4355-3_4478del
NM_001407638.1:c.4355-3_4478del
NM_001407639.1:c.4355-3_4478del
NM_001407640.1:c.4355-3_4478del
NM_001407641.1:c.4355-3_4478del
NM_001407642.1:c.4355-3_4478del
NM_001407644.1:c.4352-3_4475del
NM_001407645.1:c.4352-3_4475del
NM_001407647.1:c.4346-3_4469del
NM_001407657.1:c.4280-3_4403del
NM_001407658.1:c.4280-3_4403del
NM_001407661.1:c.4277-3_4400del
NM_001407662.1:c.4277-3_4400del
NM_001407663.1:c.4277-3_4400del
NM_001407677.1:c.4235-3_4358del
NM_001407678.1:c.4235-3_4358del
NM_001407679.1:c.4235-3_4358del
NM_001407680.1:c.4235-3_4358del
NM_001407681.1:c.4232-3_4355del
NM_001407682.1:c.4232-3_4355del
NM_001407683.1:c.4232-3_4355del
NM_001407688.1:c.4232-3_4355del
NM_001407689.1:c.4232-3_4355del
NM_001407690.1:c.4229-3_4352del
NM_001407691.1:c.4229-3_4352del
NM_001407732.1:c.4217-3_4340del
NM_001407733.1:c.4217-3_4340del
NM_001407734.1:c.4217-3_4340del
NM_001407735.1:c.4217-3_4340del
NM_001407736.1:c.4217-3_4340del
NM_001407737.1:c.4217-3_4340del
NM_001407738.1:c.4217-3_4340del
NM_001407739.1:c.4217-3_4340del
NM_001407838.1:c.4214-3_4337del
NM_001407839.1:c.4214-3_4337del
NM_001407841.1:c.4214-3_4337del
NM_001407842.1:c.4214-3_4337del
NM_001407843.1:c.4214-3_4337del
NM_001407844.1:c.4214-3_4337del
NM_001407845.1:c.4214-3_4337del
NM_001407846.1:c.4214-3_4337del
NM_001407850.1:c.4214-3_4337del
NM_001407851.1:c.4214-3_4337del
NM_001407852.1:c.4214-3_4337del
NM_001407858.1:c.4358-3_4481del
NM_001407859.1:c.4358-3_4481del
NM_001407861.1:c.4355-3_4478del
NM_001407863.1:c.4235-3_4358del
NM_001407874.1:c.4154-3_4277del
NM_001407875.1:c.4154-3_4277del
NM_001407900.1:c.4148-3_4271del
NM_001407902.1:c.4148-3_4271del
NM_001407904.1:c.4148-3_4271del
NM_001407906.1:c.4148-3_4271del
NM_001407916.1:c.4145-3_4268del
NM_001407917.1:c.4145-3_4268del
NM_001407918.1:c.4145-3_4268del
NM_001407927.1:c.4094-3_4217del
NM_001407928.1:c.4094-3_4217del
NM_001407929.1:c.4094-3_4217del
NM_001407935.1:c.4091-3_4214del
NM_001407936.1:c.4091-3_4214del
NM_001407939.1:c.4235-3_4358del
NM_001407941.1:c.4232-3_4355del
NM_001407944.1:c.4217-3_4340del
NM_001407945.1:c.4217-3_4340del
NM_001407950.1:c.4025-3_4148del
NM_001407951.1:c.4025-3_4148del
NM_001407957.1:c.4022-3_4145del
NM_001407958.1:c.4022-3_4145del
NM_001407960.1:c.3977-3_4100del
NM_001407963.1:c.3974-3_4097del
NM_001407964.1:c.4214-5376_4214-5250del
NM_001407967.1:c.3470-3_3593del
NM_001407993.1:c.1049-3_1172del
NM_001408392.1:c.1046-3_1169del
NM_001408396.1:c.1046-3_1169del
NM_001408397.1:c.1046-3_1169del
NM_001408398.1:c.1046-3_1169del
NM_001408399.1:c.1046-3_1169del
NM_001408403.1:c.1046-3_1169del
NM_001408404.1:c.1046-3_1169del
NM_001408407.1:c.1043-3_1166del
NM_001408412.1:c.971-3_1094del
NM_001408414.1:c.971-3_1094del
NM_001408415.1:c.971-3_1094del
NM_001408422.1:c.932-3_1055del
NM_001408423.1:c.932-3_1055del
NM_001408431.1:c.929-3_1052del
NM_001408436.1:c.926-3_1049del
NM_001408437.1:c.926-3_1049del
NM_001408438.1:c.926-3_1049del
NM_001408439.1:c.926-3_1049del
NM_001408440.1:c.926-3_1049del
NM_001408445.1:c.923-3_1046del
NM_001408446.1:c.923-3_1046del
NM_001408447.1:c.923-3_1046del
NM_001408448.1:c.923-3_1046del
NM_001408450.1:c.923-3_1046del
NM_001408458.1:c.908-3_1031del
NM_001408459.1:c.908-3_1031del
NM_001408460.1:c.908-3_1031del
NM_001408461.1:c.908-3_1031del
NM_001408468.1:c.905-3_1028del
NM_001408469.1:c.905-3_1028del
NM_001408473.1:c.1046-3_1169del
NM_001408476.1:c.848-3_971del
NM_001408481.1:c.839-3_962del
NM_001408482.1:c.839-3_962del
NM_001408483.1:c.839-3_962del
NM_001408484.1:c.839-3_962del
NM_001408485.1:c.839-3_962del
NM_001408492.1:c.836-3_959del
NM_001408493.1:c.836-3_959del
NM_001408495.1:c.806-3_929del
NM_001408505.1:c.782-3_905del
NM_001408509.1:c.710-3_833del
NM_001408513.1:c.836-5376_836-5250del
NM_001408514.1:c.838+5790_838+5916del
NM_007298.4:c.1049-3_1172del
NM_007299.4:c.1049-3_1172del
NM_007300.4:c.4424-3_4547del
LRG_292t1:c.4358_4484del
LRG_292:g.141370_141496del
NC_000017.10:g.41228505_41228631del
NC_000017.10:g.41228509_41228635del
NM_007294.3:c.4358_4484del
NM_007294.3:c.4358_4484del127
p.(Ala1453GlyfsTer10)
p.Ala1453GlyfsX10

Links:

Molecular consequence:

NM_001407964.1:c.4214-5376_4214-5250del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.836-5376_836-5250del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.838+5790_838+5916del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407583.1:c.4424-3_4547del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407585.1:c.4424-3_4547del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407590.1:c.4421-3_4544del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407591.1:c.4421-3_4544del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407616.1:c.4358-3_4481del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407617.1:c.4358-3_4481del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407618.1:c.4358-3_4481del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407619.1:c.4358-3_4481del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407620.1:c.4358-3_4481del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407621.1:c.4358-3_4481del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407622.1:c.4358-3_4481del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407623.1:c.4358-3_4481del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407633.1:c.4355-3_4478del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407634.1:c.4355-3_4478del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407635.1:c.4355-3_4478del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407636.1:c.4355-3_4478del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407637.1:c.4355-3_4478del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407638.1:c.4355-3_4478del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407639.1:c.4355-3_4478del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407640.1:c.4355-3_4478del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407641.1:c.4355-3_4478del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407642.1:c.4355-3_4478del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407644.1:c.4352-3_4475del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407645.1:c.4352-3_4475del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407647.1:c.4346-3_4469del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407657.1:c.4280-3_4403del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407658.1:c.4280-3_4403del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407661.1:c.4277-3_4400del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407662.1:c.4277-3_4400del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407663.1:c.4277-3_4400del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407677.1:c.4235-3_4358del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407678.1:c.4235-3_4358del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407679.1:c.4235-3_4358del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407680.1:c.4235-3_4358del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407681.1:c.4232-3_4355del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407682.1:c.4232-3_4355del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407683.1:c.4232-3_4355del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407688.1:c.4232-3_4355del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407689.1:c.4232-3_4355del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407690.1:c.4229-3_4352del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407691.1:c.4229-3_4352del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407732.1:c.4217-3_4340del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407733.1:c.4217-3_4340del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407734.1:c.4217-3_4340del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407735.1:c.4217-3_4340del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407736.1:c.4217-3_4340del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407737.1:c.4217-3_4340del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407738.1:c.4217-3_4340del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407739.1:c.4217-3_4340del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407838.1:c.4214-3_4337del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407839.1:c.4214-3_4337del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407841.1:c.4214-3_4337del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407842.1:c.4214-3_4337del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407843.1:c.4214-3_4337del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407844.1:c.4214-3_4337del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407845.1:c.4214-3_4337del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407846.1:c.4214-3_4337del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407850.1:c.4214-3_4337del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407851.1:c.4214-3_4337del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407852.1:c.4214-3_4337del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407858.1:c.4358-3_4481del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407859.1:c.4358-3_4481del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407861.1:c.4355-3_4478del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407863.1:c.4235-3_4358del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407874.1:c.4154-3_4277del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407875.1:c.4154-3_4277del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407900.1:c.4148-3_4271del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407902.1:c.4148-3_4271del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407904.1:c.4148-3_4271del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407906.1:c.4148-3_4271del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407916.1:c.4145-3_4268del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407917.1:c.4145-3_4268del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407918.1:c.4145-3_4268del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407927.1:c.4094-3_4217del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407928.1:c.4094-3_4217del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407929.1:c.4094-3_4217del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407935.1:c.4091-3_4214del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407936.1:c.4091-3_4214del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407939.1:c.4235-3_4358del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407941.1:c.4232-3_4355del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407944.1:c.4217-3_4340del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407945.1:c.4217-3_4340del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407950.1:c.4025-3_4148del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407951.1:c.4025-3_4148del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407957.1:c.4022-3_4145del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407958.1:c.4022-3_4145del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407960.1:c.3977-3_4100del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407963.1:c.3974-3_4097del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407967.1:c.3470-3_3593del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407993.1:c.1049-3_1172del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408392.1:c.1046-3_1169del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408396.1:c.1046-3_1169del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408397.1:c.1046-3_1169del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408398.1:c.1046-3_1169del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408399.1:c.1046-3_1169del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408403.1:c.1046-3_1169del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408404.1:c.1046-3_1169del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408407.1:c.1043-3_1166del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408412.1:c.971-3_1094del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408414.1:c.971-3_1094del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408415.1:c.971-3_1094del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408422.1:c.932-3_1055del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408423.1:c.932-3_1055del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408431.1:c.929-3_1052del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408436.1:c.926-3_1049del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408437.1:c.926-3_1049del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408438.1:c.926-3_1049del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408439.1:c.926-3_1049del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408440.1:c.926-3_1049del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408445.1:c.923-3_1046del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408446.1:c.923-3_1046del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408447.1:c.923-3_1046del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408448.1:c.923-3_1046del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408450.1:c.923-3_1046del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408458.1:c.908-3_1031del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408459.1:c.908-3_1031del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408460.1:c.908-3_1031del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408461.1:c.908-3_1031del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408468.1:c.905-3_1028del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408469.1:c.905-3_1028del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408473.1:c.1046-3_1169del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408476.1:c.848-3_971del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408481.1:c.839-3_962del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408482.1:c.839-3_962del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408483.1:c.839-3_962del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408484.1:c.839-3_962del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408485.1:c.839-3_962del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408492.1:c.836-3_959del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408493.1:c.836-3_959del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408495.1:c.806-3_929del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408505.1:c.782-3_905del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408509.1:c.710-3_833del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_007298.4:c.1049-3_1172del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_007299.4:c.1049-3_1172del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_007300.4:c.4424-3_4547del - splice acceptor variant - [Sequence Ontology: SO:0001574]

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
SCV002774293	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Pathogenic (Aug 2, 2019)	unknown	clinical testing	PubMed (4) [See all records that cite these PMIDs] 16793929, 22544547, 20232141, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002774293

Quest Diagnostics Nichols Institute San Juan Capistrano

criteria provided, single submitter

(Quest Diagnostics criteria)

Pathogenic
(Aug 2, 2019)

unknown

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Genomic rearrangements at the BRCA1 locus in Spanish families with breast/ovarian cancer.

de la Hoya M, Gutiérrez-Enríquez S, Velasco E, Osorio A, Sanchez de Abajo A, Vega A, Salazar R, Esteban E, Llort G, Gonzalez-Sarmiento R, Carracedo A, Benítez J, Miner C, Díez O, Díaz-Rubio E, Caldes T.

Clin Chem. 2006 Aug;52(8):1480-5. Epub 2006 Jun 22.

PubMed [citation]

PMID:: 16793929

Clinical significance of large rearrangements in BRCA1 and BRCA2.

Judkins T, Rosenthal E, Arnell C, Burbidge LA, Geary W, Barrus T, Schoenberger J, Trost J, Wenstrup RJ, Roa BB.

Cancer. 2012 Nov 1;118(21):5210-6. doi: 10.1002/cncr.27556. Epub 2012 Apr 27.

PubMed [citation]

PMID:: 22544547
PMCID:: PMC3532625

See all PubMed Citations (4)

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV002774293.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

Description

The variant results in a shift of the reading frame, and is therefore predicted to result in the loss of a functional protein. In addition, an exon 14 deletion of the BRCA1 gene has been identified in multiple hereditary breast and/or ovarian cancer families, particularly in the Latin-American population (PMIDs: 22544547(2012) and 16793929 (2006)). Based on the available information, this variant is classified as pathogenic.

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

Last Updated: Jun 17, 2024

ClinVar

Relating variation to medicine