NM_000038.6(APC):c.3378C>G (p.Ser1126Arg) AND not provided

Germline classification:: Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:: Jun 7, 2023
Review status:: criteria provided, conflicting classifications

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:: RCV000985246.12

Allele description [Variation Report for NM_000038.6(APC):c.3378C>G (p.Ser1126Arg)]

NM_000038.6(APC):c.3378C>G (p.Ser1126Arg)

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.3378C>G (p.Ser1126Arg)

Other names:

p.S1126R:AGC>AGG

HGVS:

NC_000005.10:g.112838972C>G
NG_008481.4:g.151452C>G
NM_000038.6:c.3378C>GMANE SELECT
NM_001127510.3:c.3378C>G
NM_001127511.3:c.3324C>G
NM_001354895.2:c.3378C>G
NM_001354896.2:c.3432C>G
NM_001354897.2:c.3408C>G
NM_001354898.2:c.3303C>G
NM_001354899.2:c.3294C>G
NM_001354900.2:c.3255C>G
NM_001354901.2:c.3201C>G
NM_001354902.2:c.3105C>G
NM_001354903.2:c.3075C>G
NM_001354904.2:c.3000C>G
NM_001354905.2:c.2898C>G
NM_001354906.2:c.2529C>G
NP_000029.2:p.Ser1126Arg
NP_001120982.1:p.Ser1126Arg
NP_001120983.2:p.Ser1108Arg
NP_001341824.1:p.Ser1126Arg
NP_001341825.1:p.Ser1144Arg
NP_001341826.1:p.Ser1136Arg
NP_001341827.1:p.Ser1101Arg
NP_001341828.1:p.Ser1098Arg
NP_001341829.1:p.Ser1085Arg
NP_001341830.1:p.Ser1067Arg
NP_001341831.1:p.Ser1035Arg
NP_001341832.1:p.Ser1025Arg
NP_001341833.1:p.Ser1000Arg
NP_001341834.1:p.Ser966Arg
NP_001341835.1:p.Ser843Arg
LRG_130t1:c.3378C>G
LRG_130:g.151452C>G
NC_000005.9:g.112174669C>G
NM_000038.4:c.3378C>G
NM_000038.5:c.3378C>G

Protein change:

S1000R

Links:

dbSNP: rs149353082

NCBI 1000 Genomes Browser:

rs149353082

Molecular consequence:

NM_000038.6:c.3378C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001127510.3:c.3378C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001127511.3:c.3324C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354895.2:c.3378C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354896.2:c.3432C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354897.2:c.3408C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354898.2:c.3303C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354899.2:c.3294C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354900.2:c.3255C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354901.2:c.3201C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354902.2:c.3105C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354903.2:c.3075C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354904.2:c.3000C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354905.2:c.2898C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354906.2:c.2529C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000600080	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Likely benign (Dec 8, 2022)	unknown	clinical testing	PubMed (6) [See all records that cite these PMIDs] 19768578, 16569251, 24728327, 26332594, 26625971, 26467025
SCV004234479	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jun 7, 2023)	germline	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

SCV000600080

Quest Diagnostics Nichols Institute San Juan Capistrano

criteria provided, single submitter

(Quest Diagnostics criteria)

Likely benign
(Dec 8, 2022)

unknown

clinical testing

PubMed (6)
[See all records that cite these PMIDs]

SCV004234479

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jun 7, 2023)

germline

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	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Mutation analysis of the APC gene in Taiwanese FAP families: low incidence of APC germline mutation in a distinct subgroup of FAP families.

Chiang JM, Chen HW, Tang RP, Chen JS, Changchien CR, Hsieh PS, Wang JY.

Fam Cancer. 2010 Jun;9(2):117-24. doi: 10.1007/s10689-009-9292-2. Epub 2009 Sep 19.

PubMed [citation]

PMID:: 19768578

Single nucleotide polymorphisms of the APC gene and colorectal cancer risk: a case-control study in Taiwan.

Chen SP, Tsai ST, Jao SW, Huang YL, Chao YC, Chen YL, Wu CC, Lin SZ, Harn HJ.

BMC Cancer. 2006 Mar 29;6:83.

PubMed [citation]

PMID:: 16569251
PMCID:: PMC1488868

See all PubMed Citations (7)

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000600080.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (6)

#	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

From Revvity Omics, Revvity, SCV004234479.1

#	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	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 13, 2024

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