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NM_001127511.3(APC):c.134G>C (p.Arg45Pro) AND Familial adenomatous polyposis 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 14, 2023
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:
RCV003534539.1

Allele description

NM_001127511.3(APC):c.134G>C (p.Arg45Pro)

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_001127511.3(APC):c.134G>C (p.Arg45Pro)
HGVS:
  • NC_000005.10:g.112707851G>C
  • NG_008481.4:g.20331G>C
  • NM_001127511.3:c.134G>C
  • NM_001354895.2:c.-50G>C
  • NM_001354897.2:c.134G>C
  • NM_001354902.2:c.134G>C
  • NM_001407446.1:c.134G>C
  • NM_001407447.1:c.-50G>C
  • NM_001407448.1:c.-19+202G>C
  • NM_001407450.1:c.-19+202G>C
  • NM_001407452.1:c.-50G>C
  • NM_001407453.1:c.-43+202G>C
  • NM_001407456.1:c.-50G>C
  • NM_001407457.1:c.-19+202G>C
  • NM_001407458.1:c.-19+202G>C
  • NM_001407460.1:c.-50G>C
  • NM_001407469.1:c.-50G>C
  • NM_001407470.1:c.-1085G>C
  • NM_001407472.1:c.-1085G>C
  • NP_001120983.2:p.Arg45Pro
  • NP_001341826.1:p.Arg45Pro
  • NP_001341831.1:p.Arg45Pro
  • NP_001394375.1:p.Arg45Pro
  • LRG_130t3:c.-50G>C
  • LRG_130:g.20331G>C
  • NC_000005.9:g.112043548G>C
  • NM_000038.5:c.-30093G>C
  • NM_001127511.1:c.-50G>C
  • NR_176366.1:n.354G>C
Protein change:
R45P
Links:
dbSNP: rs1004213568
NCBI 1000 Genomes Browser:
rs1004213568
Molecular consequence:
  • NM_001354895.2:c.-50G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407447.1:c.-50G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407452.1:c.-50G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407456.1:c.-50G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407460.1:c.-50G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407469.1:c.-50G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407470.1:c.-1085G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407472.1:c.-1085G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407448.1:c.-19+202G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407450.1:c.-19+202G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407453.1:c.-43+202G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407457.1:c.-19+202G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407458.1:c.-19+202G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001127511.3:c.134G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354897.2:c.134G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354902.2:c.134G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407446.1:c.134G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_176366.1:n.354G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000768455Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Dec 14, 2023) 		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, SCV000768455.6

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

Description

This variant occurs in a non-coding region of the APC gene. It does not change the encoded amino acid sequence of the APC protein. This variant is present in population databases (no rsID available, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with APC-related conditions. ClinVar contains an entry for this variant (Variation ID: 537689). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.

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

Last Updated: Jun 2, 2024