ClinVar

NM_000051.4(ATM):c.8558C>T (p.Thr2853Met)

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: 108345882 (on Assembly GRCh38)
• Chr11: 108216609 (on Assembly GRCh37)

Preferred name:

NM_000051.4(ATM):c.8558C>T (p.Thr2853Met)

Other names:

p.T2853M:ACG>ATG

HGVS:

• NC_000011.10:g.108345882C>T
• NG_009830.1:g.128051C>T
• NG_054724.1:g.128951G>A
• NM_000051.4:c.8558C>TMANE SELECT
• NM_001330368.2:c.641-36811G>A
• NM_001351110.2:c.695-10590G>A
• NM_001351834.2:c.8558C>T
• NP_000042.3:p.Thr2853Met
• NP_000042.3:p.Thr2853Met
• NP_001338763.1:p.Thr2853Met
• LRG_135t1:c.8558C>T
• LRG_135:g.128051C>T
• LRG_135p1:p.Thr2853Met
• NC_000011.9:g.108216609C>T
• NM_000051.3:c.8558C>T
• p.T2853M

This HGVS expression did not pass validation

Protein change:

T2853M

Links:

dbSNP: rs141534716

NCBI 1000 Genomes Browser:

rs141534716

Molecular consequence:

• NM_001330368.2:c.641-36811G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001351110.2:c.695-10590G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_000051.4:c.8558C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001351834.2:c.8558C>T - missense variant - [Sequence Ontology: SO:0001583]