NM_000038.6(APC):c.694C>T (p.Arg232Ter) AND Familial adenomatous polyposis 1
- Germline classification:
- Pathogenic (6 submissions)
- Last evaluated:
- Jan 3, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000035081.23
Allele description [Variation Report for NM_000038.6(APC):c.694C>T (p.Arg232Ter)]
NM_000038.6(APC):c.694C>T (p.Arg232Ter)
Condition(s)
-
Homo sapiens BBP-like protein 1 (BLP1), transcript variant 1, mRNA
Homo sapiens BBP-like protein 1 (BLP1), transcript variant 1, mRNAgi|17865796|ref|NM_078473.1|Nucleotide
-
AGENCOURT_86398485 NICHD_XGC_panc Xenopus laevis cDNA clone IMAGE:8734850 5', mR...
AGENCOURT_86398485 NICHD_XGC_panc Xenopus laevis cDNA clone IMAGE:8734850 5', mRNA sequencegi|111582303|gnl|dbEST|40924148|gb| 883.1|Nucleotide
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See more...Assertion and evidence details
Flagged submissions
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV004808114 | Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center | flagged submission Reason: Outlier claim with insufficient supporting evidence Notes: None (ACMG Guidelines, 2015) | Uncertain significance (Mar 29, 2024) | germline | clinical testing |
Last Updated: Oct 20, 2024