ClinVar

NM_007194.4(CHEK2):c.444+1G>A

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

22q12.1

Genomic location:

• Chr22: 28725242 (on Assembly GRCh38)
• Chr22: 29121230 (on Assembly GRCh37)

Preferred name:

NM_007194.4(CHEK2):c.444+1G>A

Other names:

IVS3+1G>A

HGVS:

• NC_000022.11:g.28725242C>T
• NG_008150.2:g.21625G>A
• NM_001005735.2:c.573+1G>A
• NM_001257387.2:c.-334+1G>A
• NM_001349956.2:c.444+1G>A
• NM_007194.4:c.444+1G>AMANE SELECT
• NM_145862.2:c.444+1G>A
• LRG_302t1:c.444+1G>A
• LRG_302:g.21625G>A
• NC_000022.10:g.29121230C>T
• NM_001005735.1:c.573+1G>A
• NM_007194.3:c.444+1G>A

This HGVS expression did not pass validation

Note:

NCBI staff provided an HGVS expression for allelic variant 604373.0013 by confirming that the allele introduced an Hpy188 III site in the product of primers Ch2/3f and Ch2/3r Cybulski et al.,2004 (PubMed 15492928).

Nucleotide change:

IVS2DS, G-A, +1

Links:

OMIM: 604373.0013; dbSNP: rs121908698

NCBI 1000 Genomes Browser:

rs121908698

Molecular consequence:

• NM_001005735.2:c.573+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001257387.2:c.-334+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001349956.2:c.444+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_007194.4:c.444+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_145862.2:c.444+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Functional consequence:

sequence variant affecting splice donor [Sequence Ontology: SO:1000072]

Observations:

2