NM_000038.5(APC):c.1621C>T (p.Gln541Ter) AND Brain tumor-polyposis syndrome 2

Clinical significance:Pathogenic (Last evaluated: Aug 1, 1992)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000000844.2

Allele description [Variation Report for NM_000038.5(APC):c.1621C>T (p.Gln541Ter)]

NM_000038.5(APC):c.1621C>T (p.Gln541Ter)

Gene:
APC:APC, WNT signaling pathway regulator [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q22.2
Genomic location:
Preferred name:
NM_000038.5(APC):c.1621C>T (p.Gln541Ter)
HGVS:
  • NC_000005.10:g.112828001C>T
  • NG_008481.4:g.140481C>T
  • NM_000038.5:c.1621C>T
  • NM_001127510.2:c.1621C>T
  • NM_001127511.2:c.1567C>T
  • NP_000029.2:p.Gln541Ter
  • NP_001120982.1:p.Gln541Ter
  • NP_001120983.2:p.Gln523Ter
  • LRG_130:g.140481C>T
  • LRG_130p1:p.Gln541Ter
  • LRG_130p2:p.Gln541Ter
  • NC_000005.9:g.112163698C>T
  • p.Gln541*
Protein change:
Q523*; GLN541TER
Links:
OMIM: 611731.0014; dbSNP: 137854572
NCBI 1000 Genomes Browser:
rs137854572
Molecular consequence:
  • NM_000038.5:c.1621C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Brain tumor-polyposis syndrome 2 (BTPS2)
Identifiers:
MedGen: C2673218

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000020994OMIMno assertion criteria providedPathogenic
(Aug 1, 1992)
germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Hamilton, S. R., Liu, B., Parsons, R. E., Papadopoulos, N., Jen, J., Powell, S. M., Krush, A. J., Berk, T., Cohen, Z., Tetu, B., Burger, P. C., Wood, P. A., Taqi, F., Booker, S. V., Petersen, G. M., Offerhaus, G. J. A., Tersmette, A. C., Giardiello, F. M., Vogelstein, B., Kinzler, K. W. The molecular basis of Turcot's syndrome. New Eng. J. Med. 332: 839-847, 1995.

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Eight novel inactivating germ line mutations at the APC gene identified by denaturing gradient gel electrophoresis.

Fodde R, van der Luijt R, Wijnen J, Tops C, van der Klift H, van Leeuwen-Cornelisse I, Griffioen G, Vasen H, Khan PM.

Genomics. 1992 Aug;13(4):1162-8.

PubMed [citation]
PMID:
1324223

Details of each submission

From OMIM, SCV000020994.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In affected members of a Dutch family with FAP1 (175100), Fodde et al. (1992) identified a C-to-T transition in the APC gene, resulting in a gln541-to-ter (Q541X) substitution.

Hamilton et al. (1995) found the same mutation in an FAP family in which 1 patient also had a calcified ependymoma, indicating brain tumor-polyposis syndrome-2.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 30, 2018