ClinVar

NM_007294.4(BRCA1):c.3403C>T (p.Gln1135Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.31

Genomic location:

• Chr17: 43092128 (on Assembly GRCh38)
• Chr17: 41244145 (on Assembly GRCh37)

Preferred name:

NM_007294.4(BRCA1):c.3403C>T (p.Gln1135Ter)

HGVS:

• NC_000017.11:g.43092128G>A
• NG_005905.2:g.125856C>T
• NM_007294.3:c.3403C>T
• NM_007294.4:c.3403C>T
• NM_007297.4:c.3262C>T
• NM_007298.3:c.788-1096C>T
• NM_007299.4:c.788-1096C>T
• NM_007300.4:c.3403C>T
• NP_009225.1:p.Gln1135Ter
• NP_009225.1:p.Gln1135Ter
• NP_009228.2:p.Gln1088Ter
• NP_009231.2:p.Gln1135Ter
• LRG_292t1:c.3403C>T
• LRG_292:g.125856C>T
• NC_000017.10:g.41244145G>A
• NR_027676.2:n.3580C>T
• U14680.1:n.3522C>T

This HGVS expression did not pass validation

Nucleotide change:

3522C>T

Protein change:

Q1088*

Links:

dbSNP: rs80357136

NCBI 1000 Genomes Browser:

rs80357136

Molecular consequence:

• NM_007298.3:c.788-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_007299.4:c.788-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
• NR_027676.2:n.3580C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_007294.3:c.3403C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_007294.4:c.3403C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_007297.4:c.3262C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_007300.4:c.3403C>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

1