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I would like to know why there are different entries for the same mutation in COSMIC, for example COSM6954941 and COSM12833 both refer to ERBB4 c.908C>A.

In this specific case the field Gene name in the two entries is different, COSM6954941 report ERBB4_ENST00000402597 while COSM12833 report ERBB4, but there are many cases in which the Gene name is the same, for example COSM1361 and COSM1219.

Daniel Standage
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mox
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    Welcome to the site! Please [edit] your question and add links to these cosmic entries so we can check what you mean more easily. You might not be able to link to all of them (there are some restrictions on how many links new users can include, to limit spam). If you have issues with that, just add the links as text (remove the "https://:") and I will add them for you. – terdon Nov 30 '18 at 15:51
  • Hi @terdon, I added the links as you requested. Please note that I ave got an answer via email that I report using the "answer your question" button. – mox Jan 09 '19 at 11:54
  • Great! And thank you for remembering to come back and post the answer. That's very helpful and might help future users with the same problem. – terdon Jan 09 '19 at 11:56

1 Answers1

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Harry Boutselakis addressed the question via the customer support of the COSMIC web site.

Dear Ivan, Thank you for using COSMIC.

I would like to know why there are different entries for the same mutation in COSMIC, for example COSM6954941 and COSM12833 both refer to ERBB4 c.908C>A.

<p>In this specific case the field Gene name in the two entries is different,   COSM6954941 report ERBB4_ENST00000402597 while COSM12833
report ERBB4,</p>

The mutations are annotated onto two different isoforms of ERBB4. So this annotation refers to two different transcripts. In these cases the consequence of the mutation on the mRNA and polypeptide is the same reflected by the syntax.

but there are many cases in which the Gene name is the same, for example COSM1361 and COSM1219.

This case the consequence one mutation on the mRNA is unknown , but the amino acid change is the same on both cases.

The information stored in COSMIC is curated from experimental data, depending on the evidence and experimental methodology used, the mutations are differentiated accordingly. I hope this answers your question.

Kind regards,

Harry

terdon
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mox
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