NM_000038.6(APC):c.7058C>G (p.Thr2353Ser) AND Classic or attenuated familial adenomatous polyposis

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 15, 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:: RCV004004457.2

Allele description [Variation Report for NM_000038.6(APC):c.7058C>G (p.Thr2353Ser)]

NM_000038.6(APC):c.7058C>G (p.Thr2353Ser)

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.7058C>G (p.Thr2353Ser)

HGVS:

NC_000005.10:g.112842652C>G
NG_008481.4:g.155132C>G
NM_000038.6:c.7058C>GMANE SELECT
NM_001127510.3:c.7058C>G
NM_001127511.3:c.7004C>G
NM_001354895.2:c.7058C>G
NM_001354896.2:c.7112C>G
NM_001354897.2:c.7088C>G
NM_001354898.2:c.6983C>G
NM_001354899.2:c.6974C>G
NM_001354900.2:c.6935C>G
NM_001354901.2:c.6881C>G
NM_001354902.2:c.6785C>G
NM_001354903.2:c.6755C>G
NM_001354904.2:c.6680C>G
NM_001354905.2:c.6578C>G
NM_001354906.2:c.6209C>G
NP_000029.2:p.Thr2353Ser
NP_001120982.1:p.Thr2353Ser
NP_001120983.2:p.Thr2335Ser
NP_001341824.1:p.Thr2353Ser
NP_001341825.1:p.Thr2371Ser
NP_001341826.1:p.Thr2363Ser
NP_001341827.1:p.Thr2328Ser
NP_001341828.1:p.Thr2325Ser
NP_001341829.1:p.Thr2312Ser
NP_001341830.1:p.Thr2294Ser
NP_001341831.1:p.Thr2262Ser
NP_001341832.1:p.Thr2252Ser
NP_001341833.1:p.Thr2227Ser
NP_001341834.1:p.Thr2193Ser
NP_001341835.1:p.Thr2070Ser
LRG_130:g.155132C>G
NC_000005.9:g.112178349C>G
NC_000005.9:g.112178349C>G
NM_000038.5:c.7058C>G

Protein change:

T2070S

Links:

dbSNP: rs1580677965

NCBI 1000 Genomes Browser:

rs1580677965

Molecular consequence:

NM_000038.6:c.7058C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001127510.3:c.7058C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001127511.3:c.7004C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354895.2:c.7058C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354896.2:c.7112C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354897.2:c.7088C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354898.2:c.6983C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354899.2:c.6974C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354900.2:c.6935C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354901.2:c.6881C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354902.2:c.6785C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354903.2:c.6755C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354904.2:c.6680C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354905.2:c.6578C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354906.2:c.6209C>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Classic or attenuated familial adenomatous polyposis
Identifiers:: MONDO: MONDO:0021057; MedGen: CN372698

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004843492	All of Us Research Program, National Institutes of Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain Significance (Aug 15, 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

SCV004843492

All of Us Research Program, National Institutes of Health

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain Significance
(Aug 15, 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	1	not provided	not provided	108544	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 All of Us Research Program, National Institutes of Health, SCV004843492.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	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	108544	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Oct 26, 2024

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