NM_000038.6(APC):c.7697G>C (p.Arg2566Thr) AND Familial adenomatous polyposis 1

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 6, 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:: RCV003476579.1

Allele description [Variation Report for NM_000038.6(APC):c.7697G>C (p.Arg2566Thr)]

NM_000038.6(APC):c.7697G>C (p.Arg2566Thr)

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.7697G>C (p.Arg2566Thr)

HGVS:

NC_000005.10:g.112843291G>C
NG_008481.4:g.155771G>C
NM_000038.6:c.7697G>CMANE SELECT
NM_001127510.3:c.7697G>C
NM_001127511.3:c.7643G>C
NM_001354895.2:c.7697G>C
NM_001354896.2:c.7751G>C
NM_001354897.2:c.7727G>C
NM_001354898.2:c.7622G>C
NM_001354899.2:c.7613G>C
NM_001354900.2:c.7574G>C
NM_001354901.2:c.7520G>C
NM_001354902.2:c.7424G>C
NM_001354903.2:c.7394G>C
NM_001354904.2:c.7319G>C
NM_001354905.2:c.7217G>C
NM_001354906.2:c.6848G>C
NM_001407446.1:c.7781G>C
NM_001407447.1:c.7751G>C
NM_001407448.1:c.7751G>C
NM_001407449.1:c.7751G>C
NM_001407450.1:c.7697G>C
NM_001407451.1:c.7676G>C
NM_001407452.1:c.7667G>C
NM_001407453.1:c.7520G>C
NM_001407454.1:c.7448G>C
NM_001407455.1:c.7448G>C
NM_001407456.1:c.7448G>C
NM_001407457.1:c.7448G>C
NM_001407458.1:c.7394G>C
NM_001407459.1:c.7394G>C
NM_001407460.1:c.7394G>C
NM_001407467.1:c.7310G>C
NM_001407469.1:c.7310G>C
NM_001407470.1:c.6848G>C
NM_001407471.1:c.6545G>C
NM_001407472.1:c.6545G>C
NP_000029.2:p.Arg2566Thr
NP_000029.2:p.Arg2566Thr
NP_001120982.1:p.Arg2566Thr
NP_001120982.1:p.Arg2566Thr
NP_001120983.1:p.Arg2566Thr
NP_001120983.2:p.Arg2548Thr
NP_001341824.1:p.Arg2566Thr
NP_001341825.1:p.Arg2584Thr
NP_001341826.1:p.Arg2576Thr
NP_001341827.1:p.Arg2541Thr
NP_001341828.1:p.Arg2538Thr
NP_001341829.1:p.Arg2525Thr
NP_001341830.1:p.Arg2507Thr
NP_001341831.1:p.Arg2475Thr
NP_001341832.1:p.Arg2465Thr
NP_001341833.1:p.Arg2440Thr
NP_001341834.1:p.Arg2406Thr
NP_001341835.1:p.Arg2283Thr
NP_001394375.1:p.Arg2594Thr
NP_001394376.1:p.Arg2584Thr
NP_001394377.1:p.Arg2584Thr
NP_001394378.1:p.Arg2584Thr
NP_001394379.1:p.Arg2566Thr
NP_001394380.1:p.Arg2559Thr
NP_001394381.1:p.Arg2556Thr
NP_001394382.1:p.Arg2507Thr
NP_001394383.1:p.Arg2483Thr
NP_001394384.1:p.Arg2483Thr
NP_001394385.1:p.Arg2483Thr
NP_001394386.1:p.Arg2483Thr
NP_001394387.1:p.Arg2465Thr
NP_001394388.1:p.Arg2465Thr
NP_001394389.1:p.Arg2465Thr
NP_001394396.1:p.Arg2437Thr
NP_001394398.1:p.Arg2437Thr
NP_001394399.1:p.Arg2283Thr
NP_001394400.1:p.Arg2182Thr
NP_001394401.1:p.Arg2182Thr
LRG_130t1:c.7697G>C
LRG_130t2:c.7697G>C
LRG_130t3:c.7697G>C
LRG_130:g.155771G>C
LRG_130p1:p.Arg2566Thr
LRG_130p2:p.Arg2566Thr
LRG_130p3:p.Arg2566Thr
NC_000005.9:g.112178988G>C
NM_000038.4:c.7697G>C
NM_001127510.1:c.7697G>C
NM_001127511.1:c.7697G>C
NR_176365.1:n.7532G>C
NR_176366.1:n.7951G>C

Protein change:

R2182T

Molecular consequence:

NM_000038.6:c.7697G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001127510.3:c.7697G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001127511.3:c.7643G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354895.2:c.7697G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354896.2:c.7751G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354897.2:c.7727G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354898.2:c.7622G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354899.2:c.7613G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354900.2:c.7574G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354901.2:c.7520G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354902.2:c.7424G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354903.2:c.7394G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354904.2:c.7319G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354905.2:c.7217G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354906.2:c.6848G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407446.1:c.7781G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407447.1:c.7751G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407448.1:c.7751G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407449.1:c.7751G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407450.1:c.7697G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407451.1:c.7676G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407452.1:c.7667G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407453.1:c.7520G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407454.1:c.7448G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407455.1:c.7448G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407456.1:c.7448G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407457.1:c.7448G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407458.1:c.7394G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407459.1:c.7394G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407460.1:c.7394G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407467.1:c.7310G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407469.1:c.7310G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407470.1:c.6848G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407471.1:c.6545G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407472.1:c.6545G>C - missense variant - [Sequence Ontology: SO:0001583]
NR_176365.1:n.7532G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176366.1:n.7951G>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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004191506	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Sep 6, 2023)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004191506

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Sep 6, 2023)

unknown

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Baylor Genetics, SCV004191506.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 30, 2023

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