ClinVar

NM_007294.4(BRCA1):c.4358-10C>T

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.31

Genomic location:

• Chr17: 43076624 (on Assembly GRCh38)
• Chr17: 41228641 (on Assembly GRCh37)

Preferred name:

NM_007294.4(BRCA1):c.4358-10C>T

Other names:

IVS13-10C>T

HGVS:

• NC_000017.11:g.43076624G>A
• NG_005905.2:g.141360C>T
• NM_007294.4:c.4358-10C>TMANE SELECT
• NM_007297.4:c.4217-10C>T
• NM_007298.3:c.1049-13C>T
• NM_007299.4:c.1049-13C>T
• NM_007300.4:c.4424-13C>T
• LRG_292t1:c.4358-10C>T
• LRG_292:g.141360C>T
• NC_000017.10:g.41228641G>A
• NM_007294.3:c.4358-10C>T
• U14680.1:n.4477-10C>T

This HGVS expression did not pass validation

Links:

Breast Cancer Information Core (BIC) (BRCA1): 4477-10&base_change=C to T; dbSNP: rs80358111

NCBI 1000 Genomes Browser:

rs80358111

Molecular consequence:

• NM_007294.4:c.4358-10C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_007297.4:c.4217-10C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_007298.3:c.1049-13C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_007299.4:c.1049-13C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_007300.4:c.4424-13C>T - intron variant - [Sequence Ontology: SO:0001627]