ClinVar

NM_000051.4(ATM):c.7456C>T (p.Arg2486Ter)

Genes:

ATM:ATM serine/threonine kinase [Gene - OMIM - HGNC]
C11orf65:chromosome 11 open reading frame 65 [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q22.3

Genomic location:

• Chr11: 108330362 (on Assembly GRCh38)
• Chr11: 108201089 (on Assembly GRCh37)

Preferred name:

NM_000051.4(ATM):c.7456C>T (p.Arg2486Ter)

Other names:

p.R2486*:CGA>TGA; p.Arg2486Ter

HGVS:

• NC_000011.10:g.108330362C>T
• NG_009830.1:g.112531C>T
• NG_054724.1:g.144471G>A
• NM_000051.4:c.7456C>TMANE SELECT
• NM_001330368.2:c.641-21291G>A
• NM_001351110.2:c.*38+4858G>A
• NM_001351834.2:c.7456C>T
• NP_000042.3:p.Arg2486Ter
• NP_000042.3:p.Arg2486Ter
• NP_001338763.1:p.Arg2486Ter
• LRG_135t1:c.7456C>T
• LRG_135:g.112531C>T
• LRG_135p1:p.Arg2486Ter
• NC_000011.9:g.108201089C>T
• NM_000051.3:c.7456C>T
• p.Arg2486Stop
• p.R2486*

This HGVS expression did not pass validation

Protein change:

R2486*

Links:

dbSNP: rs587779865

NCBI 1000 Genomes Browser:

rs587779865

Molecular consequence:

• NM_001330368.2:c.641-21291G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001351110.2:c.*38+4858G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_000051.4:c.7456C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001351834.2:c.7456C>T - nonsense - [Sequence Ontology: SO:0001587]