U.S. flag

An official website of the United States government

  • delete

NM_000038.6(APC):c.7445C>T (p.Pro2482Leu) AND Familial adenomatous polyposis 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 21, 2018
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:
RCV003653345.1

Allele description

NM_000038.6(APC):c.7445C>T (p.Pro2482Leu)

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.7445C>T (p.Pro2482Leu)
HGVS:
  • NC_000005.10:g.112843039C>T
  • NG_008481.4:g.155519C>T
  • NM_000038.6:c.7445C>TMANE SELECT
  • NM_001127510.3:c.7445C>T
  • NM_001127511.3:c.7391C>T
  • NM_001354895.2:c.7445C>T
  • NM_001354896.2:c.7499C>T
  • NM_001354897.2:c.7475C>T
  • NM_001354898.2:c.7370C>T
  • NM_001354899.2:c.7361C>T
  • NM_001354900.2:c.7322C>T
  • NM_001354901.2:c.7268C>T
  • NM_001354902.2:c.7172C>T
  • NM_001354903.2:c.7142C>T
  • NM_001354904.2:c.7067C>T
  • NM_001354905.2:c.6965C>T
  • NM_001354906.2:c.6596C>T
  • NP_000029.2:p.Pro2482Leu
  • NP_001120982.1:p.Pro2482Leu
  • NP_001120983.2:p.Pro2464Leu
  • NP_001341824.1:p.Pro2482Leu
  • NP_001341825.1:p.Pro2500Leu
  • NP_001341826.1:p.Pro2492Leu
  • NP_001341827.1:p.Pro2457Leu
  • NP_001341828.1:p.Pro2454Leu
  • NP_001341829.1:p.Pro2441Leu
  • NP_001341830.1:p.Pro2423Leu
  • NP_001341831.1:p.Pro2391Leu
  • NP_001341832.1:p.Pro2381Leu
  • NP_001341833.1:p.Pro2356Leu
  • NP_001341834.1:p.Pro2322Leu
  • NP_001341835.1:p.Pro2199Leu
  • LRG_130:g.155519C>T
  • NC_000005.9:g.112178736C>T
  • NM_000038.5:c.7445C>T
Protein change:
P2199L
Links:
dbSNP: rs1580682723
NCBI 1000 Genomes Browser:
rs1580682723
Molecular consequence:
  • NM_000038.6:c.7445C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127510.3:c.7445C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127511.3:c.7391C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354895.2:c.7445C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354896.2:c.7499C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354897.2:c.7475C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354898.2:c.7370C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354899.2:c.7361C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354900.2:c.7322C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354901.2:c.7268C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354902.2:c.7172C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354903.2:c.7142C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354904.2:c.7067C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354905.2:c.6965C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354906.2:c.6596C>T - 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

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
SCV000941057Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Dec 21, 2018) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV000941057.4

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

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals with APC-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with leucine at codon 2482 of the APC protein (p.Pro2482Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine.

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

Last Updated: Jun 2, 2024