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NM_000038.6(APC):c.3625G>A (p.Glu1209Lys) AND Familial adenomatous polyposis 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 18, 2017
Review status:
criteria provided, conflicting classifications
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000198440.17

Allele description [Variation Report for NM_000038.6(APC):c.3625G>A (p.Glu1209Lys)]

NM_000038.6(APC):c.3625G>A (p.Glu1209Lys)

Gene:
APC:APC regulator of WNT signaling pathway [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q22.2
Genomic location:
Preferred name:
NM_000038.6(APC):c.3625G>A (p.Glu1209Lys)
HGVS:
  • NC_000005.10:g.112839219G>A
  • NG_008481.4:g.151699G>A
  • NM_000038.6:c.3625G>AMANE SELECT
  • NM_001127510.3:c.3625G>A
  • NM_001127511.3:c.3571G>A
  • NM_001354895.2:c.3625G>A
  • NM_001354896.2:c.3679G>A
  • NM_001354897.2:c.3655G>A
  • NM_001354898.2:c.3550G>A
  • NM_001354899.2:c.3541G>A
  • NM_001354900.2:c.3502G>A
  • NM_001354901.2:c.3448G>A
  • NM_001354902.2:c.3352G>A
  • NM_001354903.2:c.3322G>A
  • NM_001354904.2:c.3247G>A
  • NM_001354905.2:c.3145G>A
  • NM_001354906.2:c.2776G>A
  • NP_000029.2:p.Glu1209Lys
  • NP_001120982.1:p.Glu1209Lys
  • NP_001120983.2:p.Glu1191Lys
  • NP_001341824.1:p.Glu1209Lys
  • NP_001341825.1:p.Glu1227Lys
  • NP_001341826.1:p.Glu1219Lys
  • NP_001341827.1:p.Glu1184Lys
  • NP_001341828.1:p.Glu1181Lys
  • NP_001341829.1:p.Glu1168Lys
  • NP_001341830.1:p.Glu1150Lys
  • NP_001341831.1:p.Glu1118Lys
  • NP_001341832.1:p.Glu1108Lys
  • NP_001341833.1:p.Glu1083Lys
  • NP_001341834.1:p.Glu1049Lys
  • NP_001341835.1:p.Glu926Lys
  • LRG_130:g.151699G>A
  • NC_000005.9:g.112174916G>A
  • NM_000038.5:c.3625G>A
  • p.E1209K
Protein change:
E1049K
Links:
dbSNP: rs201185479
NCBI 1000 Genomes Browser:
rs201185479
Molecular consequence:
  • NM_000038.6:c.3625G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127510.3:c.3625G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127511.3:c.3571G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354895.2:c.3625G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354896.2:c.3679G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354897.2:c.3655G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354898.2:c.3550G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354899.2:c.3541G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354900.2:c.3502G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354901.2:c.3448G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354902.2:c.3352G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354903.2:c.3322G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354904.2:c.3247G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354905.2:c.3145G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354906.2:c.2776G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Familial adenomatous polyposis 1 (FAP1)
Synonyms:
POLYPOSIS, ADENOMATOUS INTESTINAL; FAMILIAL ADENOMATOUS POLYPOSIS 1, ATTENUATED; APC-Associated Polyposis Conditions
Identifiers:
MONDO: MONDO:0021056; MedGen: C2713442; OMIM: 175100

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000785837Counsyl
criteria provided, single submitter

(Counsyl Autosomal Dominant Disease Classification criteria (2015))		Uncertain significance
(Dec 18, 2017) 		unknownclinical testing

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

Counsyl_Autosomal_Dominant_Disease_Classification_criteria_(2015)_v1.pdf

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Cancer Susceptibility Gene Mutations in Individuals With Colorectal Cancer.

Yurgelun MB, Kulke MH, Fuchs CS, Allen BA, Uno H, Hornick JL, Ukaegbu CI, Brais LK, McNamara PG, Mayer RJ, Schrag D, Meyerhardt JA, Ng K, Kidd J, Singh N, Hartman AR, Wenstrup RJ, Syngal S.

J Clin Oncol. 2017 Apr 1;35(10):1086-1095. doi: 10.1200/JCO.2016.71.0012. Epub 2017 Jan 30.

PubMed [citation]
PMID:
28135145
PMCID:
PMC5455355

Details of each submission

From Counsyl, SCV000785837.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 15, 2024