ClinVar

NM_000251.3(MSH2):c.1662-374_2458+467del

Gene:

MSH2:mutS homolog 2 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

2p21

Genomic location:

• Chr2: 47470591 - 47478986 (on Assembly GRCh38)
• Chr2: 47697730 - 47706125 (on Assembly GRCh37)

Preferred name:

NM_000251.3(MSH2):c.1662-374_2458+467del

HGVS:

• NC_000002.12:g.47470591_47478986del
• NG_007110.2:g.72468_80863del
• NM_000251.3:c.1662-374_2458+467delMANE SELECT
• NM_001258281.1:c.1464-374_2260+467del
• LRG_218:g.72468_80863del
• NC_000002.11:g.47697730_47706125del
• NM_000251.1:c.1662-374_2458+467del

This HGVS expression did not pass validation

Note:

8396-nt deletion of exons 11 through 14 plus flanking intronic sequences in gene MSH2.

Links:

Molecular consequence:

• NM_000251.3:c.1662-374_2458+467del - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001258281.1:c.1464-374_2260+467del - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_000251.3:c.1662-374_2458+467del - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001258281.1:c.1464-374_2260+467del - splice donor variant - [Sequence Ontology: SO:0001575]