ClinVar

NM_000051.4(ATM):c.8147T>C (p.Val2716Ala)

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: 108335105 (on Assembly GRCh38)
• Chr11: 108205832 (on Assembly GRCh37)

Preferred name:

NM_000051.4(ATM):c.8147T>C (p.Val2716Ala)

Other names:

p.V2716A:GTT>GCT

HGVS:

• NC_000011.10:g.108335105T>C
• NG_009830.1:g.117274T>C
• NG_054724.1:g.139728A>G
• NM_000051.4:c.8147T>CMANE SELECT
• NM_001330368.2:c.641-26034A>G
• NM_001351110.2:c.*38+115A>G
• NM_001351834.2:c.8147T>C
• NP_000042.3:p.Val2716Ala
• NP_000042.3:p.Val2716Ala
• NP_000042.3:p.Val2716Ala
• NP_001338763.1:p.Val2716Ala
• LRG_135t1:c.8147T>C
• LRG_135:g.117274T>C
• LRG_135p1:p.Val2716Ala
• NC_000011.9:g.108205832T>C
• NM_000051.3:c.8147T>C
• p.V2716A

This HGVS expression did not pass validation

Protein change:

V2716A

Links:

dbSNP: rs587782652

NCBI 1000 Genomes Browser:

rs587782652

Molecular consequence:

• NM_001330368.2:c.641-26034A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001351110.2:c.*38+115A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_000051.4:c.8147T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001351834.2:c.8147T>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1