U.S. flag

An official website of the United States government

  • delete

NM_000038.6(APC):c.1370C>A (p.Ser457Ter) AND Familial adenomatous polyposis 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 26, 2021
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV003743762.1

Allele description

NM_000038.6(APC):c.1370C>A (p.Ser457Ter)

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.1370C>A (p.Ser457Ter)
HGVS:
  • NC_000005.10:g.112821953C>A
  • NG_008481.4:g.134433C>A
  • NM_000038.6:c.1370C>AMANE SELECT
  • NM_001127510.3:c.1370C>A
  • NM_001127511.3:c.1316C>A
  • NM_001354895.2:c.1370C>A
  • NM_001354896.2:c.1370C>A
  • NM_001354897.2:c.1400C>A
  • NM_001354898.2:c.1295C>A
  • NM_001354899.2:c.1286C>A
  • NM_001354900.2:c.1193C>A
  • NM_001354901.2:c.1193C>A
  • NM_001354902.2:c.1097C>A
  • NM_001354903.2:c.1067C>A
  • NM_001354904.2:c.992C>A
  • NM_001354905.2:c.890C>A
  • NM_001354906.2:c.521C>A
  • NP_000029.2:p.Ser457Ter
  • NP_001120982.1:p.Ser457Ter
  • NP_001120983.2:p.Ser439Ter
  • NP_001341824.1:p.Ser457Ter
  • NP_001341825.1:p.Ser457Ter
  • NP_001341826.1:p.Ser467Ter
  • NP_001341827.1:p.Ser432Ter
  • NP_001341828.1:p.Ser429Ter
  • NP_001341829.1:p.Ser398Ter
  • NP_001341830.1:p.Ser398Ter
  • NP_001341831.1:p.Ser366Ter
  • NP_001341832.1:p.Ser356Ter
  • NP_001341833.1:p.Ser331Ter
  • NP_001341834.1:p.Ser297Ter
  • NP_001341835.1:p.Ser174Ter
  • LRG_130:g.134433C>A
  • NC_000005.9:g.112157650C>A
  • NM_000038.5:c.1370C>A
  • p.Ser457*
Protein change:
S174*
Links:
dbSNP: rs1060503333
NCBI 1000 Genomes Browser:
rs1060503333
Molecular consequence:
  • NM_000038.6:c.1370C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001127510.3:c.1370C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001127511.3:c.1316C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354895.2:c.1370C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354896.2:c.1370C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354897.2:c.1400C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354898.2:c.1295C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354899.2:c.1286C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354900.2:c.1193C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354901.2:c.1193C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354902.2:c.1097C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354903.2:c.1067C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354904.2:c.992C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354905.2:c.890C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354906.2:c.521C>A - nonsense - [Sequence Ontology: SO:0001587]

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000647170Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Sep 26, 2021) 		germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Genotype-phenotype correlation between position of constitutional APC gene mutation and CHRPE expression in familial adenomatous polyposis.

Wallis YL, Macdonald F, Hultén M, Morton JE, McKeown CM, Neoptolemos JP, Keighley M, Morton DG.

Hum Genet. 1994 Nov;94(5):543-8.

PubMed [citation]
PMID:
7959691

Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients.

Friedl W, Aretz S.

Hered Cancer Clin Pract. 2005 Sep 15;3(3):95-114. doi: 10.1186/1897-4287-3-3-95.

PubMed [citation]
PMID:
20223039
PMCID:
PMC2837297
See all PubMed Citations (5)

Details of each submission

From Invitae, SCV000647170.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)

Description

For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 433620). This premature translational stop signal has been observed in individual(s) with familial adenomatous polyposis (FAP) and an individual with concomitant congenital hypertrophy of the retinal pigment epithelium (CHRPE) (PMID: 7959691, 20223039, 20685668). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ser457*) in the APC gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in APC are known to be pathogenic (PMID: 17963004, 20685668).

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

Last Updated: Jun 9, 2024