NM_000038.6(APC):c.7574G>A (p.Arg2525His) AND Familial adenomatous polyposis 1

Clinical significance:Conflicting interpretations of pathogenicity, Likely benign(1);Uncertain significance(1) (Last evaluated: Dec 3, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000226636.7

Allele description [Variation Report for NM_000038.6(APC):c.7574G>A (p.Arg2525His)]

NM_000038.6(APC):c.7574G>A (p.Arg2525His)

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.7574G>A (p.Arg2525His)
HGVS:
  • NC_000005.10:g.112843168G>A
  • NG_008481.4:g.155648G>A
  • NM_000038.6:c.7574G>AMANE SELECT
  • NM_001127510.3:c.7574G>A
  • NM_001127511.3:c.7520G>A
  • NM_001354895.2:c.7574G>A
  • NM_001354896.2:c.7628G>A
  • NM_001354897.2:c.7604G>A
  • NM_001354898.2:c.7499G>A
  • NM_001354899.2:c.7490G>A
  • NM_001354900.2:c.7451G>A
  • NM_001354901.2:c.7397G>A
  • NM_001354902.2:c.7301G>A
  • NM_001354903.2:c.7271G>A
  • NM_001354904.2:c.7196G>A
  • NM_001354905.2:c.7094G>A
  • NM_001354906.2:c.6725G>A
  • NP_000029.2:p.Arg2525His
  • NP_001120982.1:p.Arg2525His
  • NP_001120983.2:p.Arg2507His
  • NP_001341824.1:p.Arg2525His
  • NP_001341825.1:p.Arg2543His
  • NP_001341826.1:p.Arg2535His
  • NP_001341827.1:p.Arg2500His
  • NP_001341828.1:p.Arg2497His
  • NP_001341829.1:p.Arg2484His
  • NP_001341830.1:p.Arg2466His
  • NP_001341831.1:p.Arg2434His
  • NP_001341832.1:p.Arg2424His
  • NP_001341833.1:p.Arg2399His
  • NP_001341834.1:p.Arg2365His
  • NP_001341835.1:p.Arg2242His
  • LRG_130:g.155648G>A
  • NC_000005.9:g.112178865G>A
  • NM_000038.5:c.7574G>A
  • p.R2525H
Protein change:
R2242H
Links:
dbSNP: rs762034315
NCBI 1000 Genomes Browser:
rs762034315
Molecular consequence:
  • NM_000038.6:c.7574G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127510.3:c.7574G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127511.3:c.7520G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354895.2:c.7574G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354896.2:c.7628G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354897.2:c.7604G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354898.2:c.7499G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354899.2:c.7490G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354900.2:c.7451G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354901.2:c.7397G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354902.2:c.7301G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354903.2:c.7271G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354904.2:c.7196G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354905.2:c.7094G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354906.2:c.6725G>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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000282826Invitaecriteria provided, single submitter
Likely benign
(Dec 3, 2020)
germlineclinical testing

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

SCV000488429Counsylcriteria provided, single submitter
Uncertain significance
(Mar 24, 2016)
unknownclinical testing

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

Counsyl Autosomal Dominant Disease Classification criteria (2015)

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod

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):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Prevalence of germline mutations in cancer predisposition genes in patients with pancreatic cancer.

Grant RC, Selander I, Connor AA, Selvarajah S, Borgida A, Briollais L, Petersen GM, Lerner-Ellis J, Holter S, Gallinger S.

Gastroenterology. 2015 Mar;148(3):556-64. doi: 10.1053/j.gastro.2014.11.042. Epub 2014 Dec 2.

PubMed [citation]
PMID:
25479140
PMCID:
PMC4339623

Details of each submission

From Invitae, SCV000282826.7

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

From Counsyl, SCV000488429.1

#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: Sep 6, 2021

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