ClinVar Miner

Submissions for variant NM_000038.6(APC):c.311C>G (p.Ser104Ter) (rs74953290)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000213087 SCV000275387 pathogenic Hereditary cancer-predisposing syndrome 2018-08-01 criteria provided, single submitter clinical testing The p.S104* pathogenic mutation (also known as c.311C>G), located in coding exon 3 of the APC gene, results from a C to G substitution at nucleotide position 311. This changes the amino acid from a serine to a stop codon within coding exon 3. This mutation has previously been reported in a Spanish individual diagnosed with familial adenomatous polyposis (FAP) (Garzón-Benavides M et al. Rev Esp Enferm Dig 2010 Nov;102(11):653-7). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000506152 SCV000602536 pathogenic not specified 2017-03-05 criteria provided, single submitter clinical testing
GeneDx RCV000519665 SCV000617331 likely pathogenic not provided 2017-03-10 criteria provided, single submitter clinical testing This variant is denoted APC c.311C>G at the cDNA level and p.Ser104Ter (S104X) at the protein level. The substitution creates a nonsense variant, which changes a Serine to a premature stop codon (TCA>TGA). While this variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay, Heppner Gross (2002) has demonstrated the production of a functional truncated APC protein, although at a low level, through the use of an alternate downstream Methionine codon. This variant has been reported in at least one individual with a personal and/or family history suggestive of Familial Adenomatous Polyposis (Garzon-Benavides 2010). Based on the currently available information, we consider this variant to be likely pathogenic.
Institute of Human Genetics, Klinikum rechts der Isar RCV001254064 SCV001429974 pathogenic Familial adenomatous polyposis 1 2017-10-18 no assertion criteria provided clinical testing

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