ClinVar

NM_007294.4(BRCA1):c.5123C>T (p.Ala1708Val)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.31

Genomic location:

• Chr17: 43063903 (on Assembly GRCh38)
• Chr17: 41215920 (on Assembly GRCh37)

Preferred name:

NM_007294.4(BRCA1):c.5123C>T (p.Ala1708Val)

Other names:

p.A1708V:GCG>GTG

HGVS:

• NC_000017.11:g.43063903G>A
• NG_005905.2:g.154081C>T
• NM_007294.3:c.5123C>T
• NM_007294.4:c.5123C>TMANE SELECT
• NM_007297.4:c.4982C>T
• NM_007298.3:c.1811C>T
• NM_007299.4:c.1811C>T
• NM_007300.4:c.5186C>T
• NP_009225.1:p.Ala1708Val
• NP_009225.1:p.Ala1708Val
• NP_009228.2:p.Ala1661Val
• NP_009229.2:p.Ala604Val
• NP_009230.2:p.Ala604Val
• NP_009231.2:p.Ala1729Val
• LRG_292t1:c.5123C>T
• LRG_292:g.154081C>T
• LRG_292p1:p.Ala1708Val
• NC_000017.10:g.41215920G>A
• NM_007294.2:c.5123C>T
• NR_027676.2:n.5300C>T
• p.A1708V

This HGVS expression did not pass validation

Nucleotide change:

5242C>T

Protein change:

A1661V

Links:

dbSNP: rs28897696

Molecular consequence:

• NM_007294.3:c.5123C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_007294.4:c.5123C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_007297.4:c.4982C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_007298.3:c.1811C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_007299.4:c.1811C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_007300.4:c.5186C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_027676.2:n.5300C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Functional consequence:

functionally_normal [Sequence Ontology: SO:0002219] - Comment(s)

• The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5123C>T, a MISSENSE variant, produced a function score of -0.22, corresponding to a functional classification of FUNCTIONAL. SGE function score ranges for classification are as follows: ‘functional’, score > -0.748; ‘intermediate’, -0.748 > score > -1.328; ‘non-functional’, score < -1.328. The median synonymous SNV scored 0.0 and the median nonsense SNV scored -2.12.