NM_000038.5(APC):c.3920T>A (p.Ile1307Lys)

NM_000038.5(APC):c.3920T>A (p.Ile1307Lys)

Variant type:
single nucleotide variant
Cytogenetic location:
5q22
Genomic location:
  • Chr5:112839514 (on Assembly GRCh38)
  • Chr5:112175211 (on Assembly GRCh37)
Other names:
  • 3920T>A
Protein change:
I1307K, I1289K
HGVS:
  • NG_008481.4:g.151994T>A
  • NM_001127511.2:c.3866T>A
  • NM_000038.5:c.3920T>A
  • NM_001127510.2:c.3920T>A
  • NC_000005.10:g.112839514T>A (GRCh38)
  • NP_001120983.2:p.Ile1289Lys
  • NP_000029.2:p.Ile1307Lys
  • NP_001120982.1:p.Ile1307Lys
  • NC_000005.9:g.112175211T>A (GRCh37)
  • LRG_130p1:p.Ile1307Lys
  • LRG_130p2:p.Ile1307Lys
  • LRG_130:g.151994T>A
  • NM_000038.3:c.3920T>A
  • NM_000038.4:c.3920T>A
  • NM_001127510.1:c.3920T>A
  • NM_001127511.1:c.3920T>A
  • NP_001120983.1:p.Ile1307Lys
Links:
NCBI 1000 Genomes Browser:
rs1801155
Molecular consequence:
NM_000038.5:c.3920T>A: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
GO-ESP 0.00108 (A)

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Recent activity

Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study name
(Last submitted)
Submission accession
risk factor
(Feb 19, 2014)
classified by single submitterliterature only
  • Adenomatous polyposis coli, susceptibility to
unknownPubMed (17)
[See all records that cite these PMIDs]
OMIM

(Dec 30, 2010)

SCV000021014
risk factor
(Feb 19, 2014)
classified by single submitterliterature only
  • Breast cancer, susceptibility to[MedGen]
unknownPubMed (17)
[See all records that cite these PMIDs]
OMIM

(Dec 30, 2010)

SCV000021015
Pathogenic
(Oct 27, 2011)
classified by single submitterliterature onlynot providedPubMed (18)
[See all records that cite these PMIDs]
GeneReviews

(Jan 8, 2013)

SCV000040392
Uncertain significance
(Jul 13, 2012)
classified by single submitterresearchgermlinePubMed (1)
[See all records that cite this PMID]
Biesecker Laboratory - ClinSeq Project, NHGRI - ClinSeq

(Jul 15, 2012)

SCV000043125
risk factor
(Aug 26, 2014)
classified by single submitterclinical testinggermline

Citation link

GeneDx

(Oct 17, 2014)

SCV000148996
risk factor
(Dec 28, 2014)
classified by single submitterclinical testinggermlineInvitae

(Feb 27, 2015)

SCV000153895
Pathogenic
(Jun 3, 2014)
classified by single submitterclinical testing
  • Hereditary cancer-predisposing syndrome[MedGen]
germline

Citation link

Ambry Genetics

(Feb 13, 2015)

SCV000183892
not provided
(Sep 19, 2013)
not classified by submitterreference populationgermlinePubMed (1)
[See all records that cite this PMID]
ITMI

(May 29, 2014)

SCV000084184
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
Total for all submittersnot provided5germline, not provided, unknown
African; African_European; Central_Asian; East_Asian; European; Hispanic; Whole_cohort
not provided
Ambry Geneticsnot providednot providedgermlinenot providednot providednot provided
Biesecker Laboratory - ClinSeq Project, NHGRInot provided5germlinenot providednot providednot providednot provided
GeneDxnot providednot providedgermlinenot providednot providednot provided
GeneReviewsnot providednot providednot providednot providednot providedPubMednot provided
ITMInot providednot providedgermline
African; African_European; Central_Asian; East_Asian; European; Hispanic; Whole_cohort
not providednot providednot provided
Invitaenot providednot providedgermlinenot providednot providednot providednot provided
OMIMnot providednot providedunknownnot providednot providedPubMednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription
Ambry Geneticsgermlinenot providedHereditary cancer-predisposing syndrome (unknown)not providednot providednot provided
Biesecker Laboratory - ClinSeq Project, NHGRIgermline5not provided (no)not providednot providednot providedThe study set was not selected for affection status in relation to any cancer. Pathogenicity categories were based on literature curation. See Pubmed …Full description
GeneDxgermlinenot providedColon cancer (yes)not providednot providedCommon variant present in up to 11% of the Ashkenazi Jewish population and has been described as a risk factor for colorectal cancer; Recent meta-anal…Full description
GeneReviewsnot providednot providedFamilial adenomatous polyposis 1 (not provided)not providednot providedPubMednot provided
ITMIgermlinenot providednot specified (unknown)Whole_cohortnot providednot providednot provided
ITMIgermlinenot providednot specified (unknown)Africannot providednot providednot provided
ITMIgermlinenot providednot specified (unknown)African_Europeannot providednot providednot provided
ITMIgermlinenot providednot specified (unknown)Central_Asiannot providednot providednot provided
ITMIgermlinenot providednot specified (unknown)East_Asiannot providednot providednot provided
ITMIgermlinenot providednot specified (unknown)Europeannot providednot providednot provided
ITMIgermlinenot providednot specified (unknown)Hispanicnot providednot providednot provided
Invitaegermlinenot providedFamilial adenomatous polyposis 1 (unknown)not providednot providednot providedThis sequence change replaces isoleucine with lysine at codon 1307 of the APC protein (p.Ile1307Lys). The isoleucine residue is weakly conserved and t…Full description
OMIMunknownnot providedAdenomatous polyposis coli, susceptibility to (not provided)not providednot providedPubMedBy genotyping 5,081 Ashkenazi volunteers in a community survey, Woodage et al. (1998) concluded that APC I1307K carriers have a modestly elevated risk…Full description
OMIMunknownnot providedBreast cancer, susceptibility to (not provided)not providednot providedPubMedBy genotyping 5,081 Ashkenazi volunteers in a community survey, Woodage et al. (1998) concluded that APC I1307K carriers have a modestly elevated risk…Full description

Last Updated: Jun 18, 2015