Annotation Detail

Information
Associated Genes
APC
Associated Variants
APC p.Ser2621Cys (p.S2621C) ( ENST00000257430.9, ENST00000504915.3, ENST00000507379.6, ENST00000508376.6, ENST00000509732.6, ENST00000512211.7, ENST00000713638.1, ENST00000713639.1 )
APC p.Ser2621Cys (p.S2621C) ( ENST00000257430.9, ENST00000504915.3, ENST00000507379.6, ENST00000508376.6, ENST00000509732.6, ENST00000512211.7, ENST00000713638.1, ENST00000713639.1 )
Associated Disease
not specified
Source Database
ClinVar
Description
NM_000038.6(APC):c.7862C>G (p.Ser2621Cys) AND not specified
ClinVar Allele ID
49955
ClinVar RefSeq Alternation Syntax
NM_001354895.2:c.7862C>G
ClinVar RefSeq Alternation Syntax
NM_001354903.2:c.7559C>G
ClinVar RefSeq Alternation Syntax
NM_001354906.2:c.7013C>G
ClinVar RefSeq Alternation Syntax
NM_000038.6:c.7862C>G
ClinVar RefSeq Alternation Syntax
NM_001354899.2:c.7778C>G
ClinVar RefSeq Alternation Syntax
NM_001354902.2:c.7589C>G
ClinVar RefSeq Alternation Syntax
NM_001127511.3:c.7808C>G
ClinVar RefSeq Alternation Syntax
NM_001354896.2:c.7916C>G
ClinVar RefSeq Alternation Syntax
NM_001127510.3:c.7862C>G
ClinVar RefSeq Alternation Syntax
NM_001354901.2:c.7685C>G
ClinVar RefSeq Alternation Syntax
NM_001354898.2:c.7787C>G
ClinVar RefSeq Alternation Syntax
NM_001354905.2:c.7382C>G
ClinVar RefSeq Alternation Syntax
NM_001354897.2:c.7892C>G
ClinVar RefSeq Alternation Syntax
NM_001354904.2:c.7484C>G
ClinVar RefSeq Alternation Syntax
NM_001354900.2:c.7739C>G
Clinical Significance Description
Benign
Clinical Significance Last Update
2024-02-06
Clinical Significance Review Status
criteria provided, multiple submitters, no conflicts
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000077995
ClinVar Disease
not specified
Observed Origin Sample
germline
Observed Origin Sample
unknown
Drugs