ClinVar

NM_007194.4(CHEK2):c.1100del (p.Thr367fs)

Gene:

CHEK2:checkpoint kinase 2 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

22q12.1

Genomic location:

• Chr22: 28695869 (on Assembly GRCh38)
• Chr22: 29091857 (on Assembly GRCh37)

Preferred name:

NM_007194.4(CHEK2):c.1100del (p.Thr367fs)

Other names:

NP_009125.1:p.Thr367MetfsTer15

HGVS:

• NC_000022.11:g.28695869del
• NG_008150.2:g.50998del
• NM_001005735.2:c.1229del
• NM_001257387.2:c.437del
• NM_001349956.2:c.899del
• NM_007194.4:c.1100delMANE SELECT
• NM_145862.2:c.1013del
• NP_001005735.1:p.Thr410fs
• NP_001244316.1:p.Thr146fs
• NP_001336885.1:p.Thr300fs
• NP_009125.1:p.Thr367fs
• NP_665861.1:p.Thr338fs
• LRG_302t1:c.1100del
• LRG_302:g.50998del
• LRG_302p1:p.Thr367fs
• NC_000022.10:g.29091857del
• NC_000022.10:g.29091857delG
• NG_008150.1:g.50966del
• NM_001005735.1:c.1229del
• NM_001005735.1:c.1229delC
• NM_001005735.2:c.1229delC
• NM_007194.3:c.1100delC
• NM_007194.4:c.1100delCMANE SELECT
• c.1100delC
• p.T367MFS*15
• p.T367MfsX15
• p.Thr367Metfs*15
• p.Thr367MetfsX15
• p.Thr367fs
• p.Thr410fs

This HGVS expression did not pass validation

Protein change:

T146fs

Links:

OMIM: 604373.0001; dbSNP: rs555607708

NCBI 1000 Genomes Browser:

rs555607708

Molecular consequence:

• NM_001005735.2:c.1229del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001257387.2:c.437del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001349956.2:c.899del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_007194.4:c.1100del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_145862.2:c.1013del - frameshift variant - [Sequence Ontology: SO:0001589]

Functional consequence:

Uncertain function