NM_000038.6(APC):c.7707T>G (p.Ser2569Arg) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 29, 2022
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:: RCV001026737.11

Allele description [Variation Report for NM_000038.6(APC):c.7707T>G (p.Ser2569Arg)]

NM_000038.6(APC):c.7707T>G (p.Ser2569Arg)

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.7707T>G (p.Ser2569Arg)

HGVS:

NC_000005.10:g.112843301T>G
NG_008481.4:g.155781T>G
NM_000038.6:c.7707T>GMANE SELECT
NM_001127510.3:c.7707T>G
NM_001127511.3:c.7653T>G
NM_001354895.2:c.7707T>G
NM_001354896.2:c.7761T>G
NM_001354897.2:c.7737T>G
NM_001354898.2:c.7632T>G
NM_001354899.2:c.7623T>G
NM_001354900.2:c.7584T>G
NM_001354901.2:c.7530T>G
NM_001354902.2:c.7434T>G
NM_001354903.2:c.7404T>G
NM_001354904.2:c.7329T>G
NM_001354905.2:c.7227T>G
NM_001354906.2:c.6858T>G
NP_000029.2:p.Ser2569Arg
NP_001120982.1:p.Ser2569Arg
NP_001120983.2:p.Ser2551Arg
NP_001341824.1:p.Ser2569Arg
NP_001341825.1:p.Ser2587Arg
NP_001341826.1:p.Ser2579Arg
NP_001341827.1:p.Ser2544Arg
NP_001341828.1:p.Ser2541Arg
NP_001341829.1:p.Ser2528Arg
NP_001341830.1:p.Ser2510Arg
NP_001341831.1:p.Ser2478Arg
NP_001341832.1:p.Ser2468Arg
NP_001341833.1:p.Ser2443Arg
NP_001341834.1:p.Ser2409Arg
NP_001341835.1:p.Ser2286Arg
LRG_130:g.155781T>G
NC_000005.9:g.112178998T>G
NM_000038.5:c.7707T>G

Protein change:

S2286R

Links:

dbSNP: rs985452718

NCBI 1000 Genomes Browser:

rs985452718

Molecular consequence:

NM_000038.6:c.7707T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001127510.3:c.7707T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001127511.3:c.7653T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354895.2:c.7707T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354896.2:c.7761T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354897.2:c.7737T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354898.2:c.7632T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354899.2:c.7623T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354900.2:c.7584T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354901.2:c.7530T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354902.2:c.7434T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354903.2:c.7404T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354904.2:c.7329T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354905.2:c.7227T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354906.2:c.6858T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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
SCV001189174	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Sep 29, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001189174

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Sep 29, 2022)

germline

clinical testing

Citation Link

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

Details of each submission

From Ambry Genetics, SCV001189174.4

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

Description

The p.S2569R variant (also known as c.7707T>G), located in coding exon 15 of the APC gene, results from a T to G substitution at nucleotide position 7707. The serine at codon 2569 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, in silico predictors for this gene do not accurately predict pathogenicity. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	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 26, 2024

ClinVar

Relating variation to medicine