ClinVar

NM_007294.3(BRCA1):c.1703C>T (p.Pro568Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.31

Genomic location:

• Chr17: 43093828 (on Assembly GRCh38)
• Chr17: 41245845 (on Assembly GRCh37)

Preferred name:

NM_007294.3(BRCA1):c.1703C>T (p.Pro568Leu)

HGVS:

• NC_000017.11:g.43093828G>A
• NG_005905.2:g.124156C>T
• NM_007294.3:c.1703C>T
• NM_007297.4:c.1562C>T
• NM_007298.3:c.787+916C>T
• NM_007299.4:c.787+916C>T
• NM_007300.4:c.1703C>T
• NP_009225.1:p.Pro568Leu
• NP_009228.2:p.Pro521Leu
• NP_009231.2:p.Pro568Leu
• LRG_292t1:c.1703C>T
• LRG_292t1:c.1703C>T
• LRG_292:g.124156C>T
• LRG_292p1:p.Pro568Leu
• NC_000017.10:g.41245845G>A
• NR_027676.1:n.1839C>T
• U14680.1:n.1822C>T
• p.P568L

This HGVS expression did not pass validation

Nucleotide change:

1822C>T

Protein change:

P521L

Links:

dbSNP: rs80356910

NCBI 1000 Genomes Browser:

rs80356910

Molecular consequence:

• NM_007298.3:c.787+916C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_007299.4:c.787+916C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_007294.3:c.1703C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_007297.4:c.1562C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_007300.4:c.1703C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

9