NM_000038.6(APC):c.7589G>A (p.Arg2530Gln) AND not specified

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Mar 15, 2017
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:: RCV000120044.11

Allele description [Variation Report for NM_000038.6(APC):c.7589G>A (p.Arg2530Gln)]

NM_000038.6(APC):c.7589G>A (p.Arg2530Gln)

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.7589G>A (p.Arg2530Gln)

HGVS:

NC_000005.10:g.112843183G>A
NG_008481.4:g.155663G>A
NM_000038.6:c.7589G>AMANE SELECT
NM_001127510.3:c.7589G>A
NM_001127511.3:c.7535G>A
NM_001354895.2:c.7589G>A
NM_001354896.2:c.7643G>A
NM_001354897.2:c.7619G>A
NM_001354898.2:c.7514G>A
NM_001354899.2:c.7505G>A
NM_001354900.2:c.7466G>A
NM_001354901.2:c.7412G>A
NM_001354902.2:c.7316G>A
NM_001354903.2:c.7286G>A
NM_001354904.2:c.7211G>A
NM_001354905.2:c.7109G>A
NM_001354906.2:c.6740G>A
NP_000029.2:p.Arg2530Gln
NP_001120982.1:p.Arg2530Gln
NP_001120983.2:p.Arg2512Gln
NP_001341824.1:p.Arg2530Gln
NP_001341825.1:p.Arg2548Gln
NP_001341826.1:p.Arg2540Gln
NP_001341827.1:p.Arg2505Gln
NP_001341828.1:p.Arg2502Gln
NP_001341829.1:p.Arg2489Gln
NP_001341830.1:p.Arg2471Gln
NP_001341831.1:p.Arg2439Gln
NP_001341832.1:p.Arg2429Gln
NP_001341833.1:p.Arg2404Gln
NP_001341834.1:p.Arg2370Gln
NP_001341835.1:p.Arg2247Gln
LRG_130:g.155663G>A
NC_000005.9:g.112178880G>A
NM_000038.5:c.7589G>A

Protein change:

R2247Q

Links:

dbSNP: rs587778043

NCBI 1000 Genomes Browser:

rs587778043

Molecular consequence:

NM_000038.6:c.7589G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001127510.3:c.7589G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001127511.3:c.7535G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354895.2:c.7589G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354896.2:c.7643G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354897.2:c.7619G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354898.2:c.7514G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354899.2:c.7505G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354900.2:c.7466G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354901.2:c.7412G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354902.2:c.7316G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354903.2:c.7286G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354904.2:c.7211G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354905.2:c.7109G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354906.2:c.6740G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000084178	ITMI	no classification provided	not provided	germline	reference population	PubMed (1) [See all records that cite this PMID]
SCV000600155	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Uncertain significance (Mar 15, 2017)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 26976419, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000084178

ITMI

no classification provided

not provided

germline

reference population

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

SCV000600155

Quest Diagnostics Nichols Institute San Juan Capistrano

criteria provided, single submitter

(Quest Diagnostics criteria)

Uncertain significance
(Mar 15, 2017)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

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
African	germline	unknown	not provided	not provided	not provided	43	not provided	reference population
African_European	germline	unknown	not provided	not provided	not provided	46	not provided	reference population
Central_Asian	germline	unknown	not provided	not provided	not provided	50	not provided	reference population
East_Asian	germline	unknown	not provided	not provided	not provided	62	not provided	reference population
European	germline	unknown	not provided	not provided	not provided	331	not provided	reference population
Hispanic	germline	unknown	not provided	not provided	not provided	118	not provided	reference population
Whole_cohort	germline	unknown	not provided	not provided	not provided	681	not provided	reference population

Citations

PubMed

Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Bodian DL, McCutcheon JN, Kothiyal P, Huddleston KC, Iyer RK, Vockley JG, Niederhuber JE.

PLoS One. 2014;9(4):e94554. doi: 10.1371/journal.pone.0094554.

PubMed [citation]

PMID:: 24728327
PMCID:: PMC3984285

Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer.

Tung N, Lin NU, Kidd J, Allen BA, Singh N, Wenstrup RJ, Hartman AR, Winer EP, Garber JE.

J Clin Oncol. 2016 May 1;34(13):1460-8. doi: 10.1200/JCO.2015.65.0747. Epub 2016 Mar 14.

PubMed [citation]

PMID:: 26976419
PMCID:: PMC4872307

See all PubMed Citations (3)

Details of each submission

From ITMI, SCV000084178.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	African	not provided	not provided	not provided	reference population	PubMed (1)
2	African_European	not provided	not provided	not provided	reference population	PubMed (1)
3	Central_Asian	not provided	not provided	not provided	reference population	PubMed (1)
4	East_Asian	not provided	not provided	not provided	reference population	PubMed (1)
5	European	not provided	not provided	not provided	reference population	PubMed (1)
6	Hispanic	not provided	not provided	not provided	reference population	PubMed (1)
7	Whole_cohort	not provided	not provided	not provided	reference population	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	43	not provided	discovery		not provided	0	not provided	not provided
2	germline	unknown	46	not provided	discovery		not provided	0	not provided	not provided
3	germline	unknown	50	not provided	discovery		not provided	0	not provided	not provided
4	germline	unknown	62	not provided	discovery		not provided	0	not provided	not provided
5	germline	unknown	331	not provided	discovery		not provided	0.0015	not provided	not provided
6	germline	unknown	118	not provided	discovery		not provided	0	not provided	not provided
7	germline	unknown	681	not provided	discovery		not provided	0.0007	not provided	not provided

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000600155.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

#	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: Nov 10, 2024

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