ClinVar

NM_007294.4(BRCA1):c.-86C>T

Genes:

BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
LOC111589215:BRCA1 promoter region [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.31

Genomic location:

• Chr17: 43125337 (on Assembly GRCh38)
• Chr17: 41277354 (on Assembly GRCh37)

Preferred name:

NM_007294.4(BRCA1):c.-86C>T

HGVS:

• NC_000017.11:g.43125337G>A
• NG_005905.2:g.92647C>T
• NG_056086.1:g.943G>A
• NM_007294.4:c.-86C>TMANE SELECT
• NM_007297.4:c.-167C>T
• NM_007299.4:c.-80C>T
• NM_007300.4:c.-86C>T
• LRG_292t1:c.-86C>T
• LRG_292:g.92647C>T
• NC_000017.10:g.41277354G>A
• NM_007294.3:c.-86C>T
• NR_027676.2:n.28C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs143160357

NCBI 1000 Genomes Browser:

rs143160357

Molecular consequence:

• NM_007294.4:c.-86C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_007297.4:c.-167C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_007299.4:c.-80C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_007300.4:c.-86C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NR_027676.2:n.28C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]