NM_007294.3(BRCA1):c.4358_4484del AND Breast-ovarian cancer, familial, susceptibility to, 1
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Dec 15, 2017
- Review status:
- 3 stars out of maximum of 4 starsreviewed by expert panel
- Somatic classification
of clinical impact: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of oncogenicity: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Record status:
- current
- Accession:
- RCV000661103.10
Allele description [Variation Report for NM_007294.3(BRCA1):c.4358_4484del]
NM_007294.3(BRCA1):c.4358_4484del
- Gene:
- BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
- Variant type:
- Deletion
- Cytogenetic location:
- 17q21.31
- Genomic location:
- Preferred name:
- NM_007294.3(BRCA1):c.4358_4484del
- 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
This HGVS expression did not pass validation- 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)
Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV000783350 | Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) - ENIGMA | reviewed by expert panel (ENIGMA BRCA1/2 Classification Criteria (2017-06-29)) | Pathogenic (Dec 15, 2017) | germline | curation |
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 | curation |
Details of each submission
From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) - ENIGMA, SCV000783350.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | curation | not provided |
Description
Variant allele predicted to encode a truncated non-functional protein.
# | 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: Oct 26, 2024