NM_000038.6(APC):c.7130A>G (p.Asn2377Ser) AND Familial adenomatous polyposis 1

delete

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 18, 2021
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:: RCV003650438.1

Allele description

NM_000038.6(APC):c.7130A>G (p.Asn2377Ser)

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.7130A>G (p.Asn2377Ser)

HGVS:

NC_000005.10:g.112842724A>G
NG_008481.4:g.155204A>G
NM_000038.6:c.7130A>GMANE SELECT
NM_001127510.3:c.7130A>G
NM_001127511.3:c.7076A>G
NM_001354895.2:c.7130A>G
NM_001354896.2:c.7184A>G
NM_001354897.2:c.7160A>G
NM_001354898.2:c.7055A>G
NM_001354899.2:c.7046A>G
NM_001354900.2:c.7007A>G
NM_001354901.2:c.6953A>G
NM_001354902.2:c.6857A>G
NM_001354903.2:c.6827A>G
NM_001354904.2:c.6752A>G
NM_001354905.2:c.6650A>G
NM_001354906.2:c.6281A>G
NP_000029.2:p.Asn2377Ser
NP_001120982.1:p.Asn2377Ser
NP_001120983.2:p.Asn2359Ser
NP_001341824.1:p.Asn2377Ser
NP_001341825.1:p.Asn2395Ser
NP_001341826.1:p.Asn2387Ser
NP_001341827.1:p.Asn2352Ser
NP_001341828.1:p.Asn2349Ser
NP_001341829.1:p.Asn2336Ser
NP_001341830.1:p.Asn2318Ser
NP_001341831.1:p.Asn2286Ser
NP_001341832.1:p.Asn2276Ser
NP_001341833.1:p.Asn2251Ser
NP_001341834.1:p.Asn2217Ser
NP_001341835.1:p.Asn2094Ser
LRG_130:g.155204A>G
NC_000005.9:g.112178421A>G
NM_000038.5:c.7130A>G
p.N2377S

Protein change:

N2094S

Links:

dbSNP: rs786203777

NCBI 1000 Genomes Browser:

rs786203777

Molecular consequence:

NM_000038.6:c.7130A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001127510.3:c.7130A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001127511.3:c.7076A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354895.2:c.7130A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354896.2:c.7184A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354897.2:c.7160A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354898.2:c.7055A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354899.2:c.7046A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354900.2:c.7007A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354901.2:c.6953A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354902.2:c.6857A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354903.2:c.6827A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354904.2:c.6752A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354905.2:c.6650A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354906.2:c.6281A>G - 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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002172025	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Feb 18, 2021)	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

SCV002172025

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Feb 18, 2021)

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

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. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Invitae, SCV002172025.3

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

Description

Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with APC-related conditions. ClinVar contains an entry for this variant (Variation ID: 187494). This variant is not present in population databases (ExAC no frequency). This sequence change replaces asparagine with serine at codon 2377 of the APC protein (p.Asn2377Ser). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and serine. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

#	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: Jun 2, 2024

ClinVar

Relating variation to medicine