NM_000038.6(APC):c.7663T>G (p.Ser2555Ala) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 17, 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:: RCV002396461.2

Allele description [Variation Report for NM_000038.6(APC):c.7663T>G (p.Ser2555Ala)]

NM_000038.6(APC):c.7663T>G (p.Ser2555Ala)

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.7663T>G (p.Ser2555Ala)

HGVS:

NC_000005.10:g.112843257T>G
NG_008481.4:g.155737T>G
NM_000038.6:c.7663T>GMANE SELECT
NM_001127510.3:c.7663T>G
NM_001127511.3:c.7609T>G
NM_001354895.2:c.7663T>G
NM_001354896.2:c.7717T>G
NM_001354897.2:c.7693T>G
NM_001354898.2:c.7588T>G
NM_001354899.2:c.7579T>G
NM_001354900.2:c.7540T>G
NM_001354901.2:c.7486T>G
NM_001354902.2:c.7390T>G
NM_001354903.2:c.7360T>G
NM_001354904.2:c.7285T>G
NM_001354905.2:c.7183T>G
NM_001354906.2:c.6814T>G
NM_001407446.1:c.7747T>G
NM_001407447.1:c.7717T>G
NM_001407448.1:c.7717T>G
NM_001407449.1:c.7717T>G
NM_001407450.1:c.7663T>G
NM_001407451.1:c.7642T>G
NM_001407452.1:c.7633T>G
NM_001407453.1:c.7486T>G
NM_001407454.1:c.7414T>G
NM_001407455.1:c.7414T>G
NM_001407456.1:c.7414T>G
NM_001407457.1:c.7414T>G
NM_001407458.1:c.7360T>G
NM_001407459.1:c.7360T>G
NM_001407460.1:c.7360T>G
NM_001407467.1:c.7276T>G
NM_001407469.1:c.7276T>G
NM_001407470.1:c.6814T>G
NM_001407471.1:c.6511T>G
NM_001407472.1:c.6511T>G
NP_000029.2:p.Ser2555Ala
NP_000029.2:p.Ser2555Ala
NP_001120982.1:p.Ser2555Ala
NP_001120982.1:p.Ser2555Ala
NP_001120983.1:p.Ser2555Ala
NP_001120983.2:p.Ser2537Ala
NP_001341824.1:p.Ser2555Ala
NP_001341825.1:p.Ser2573Ala
NP_001341826.1:p.Ser2565Ala
NP_001341827.1:p.Ser2530Ala
NP_001341828.1:p.Ser2527Ala
NP_001341829.1:p.Ser2514Ala
NP_001341830.1:p.Ser2496Ala
NP_001341831.1:p.Ser2464Ala
NP_001341832.1:p.Ser2454Ala
NP_001341833.1:p.Ser2429Ala
NP_001341834.1:p.Ser2395Ala
NP_001341835.1:p.Ser2272Ala
NP_001394375.1:p.Ser2583Ala
NP_001394376.1:p.Ser2573Ala
NP_001394377.1:p.Ser2573Ala
NP_001394378.1:p.Ser2573Ala
NP_001394379.1:p.Ser2555Ala
NP_001394380.1:p.Ser2548Ala
NP_001394381.1:p.Ser2545Ala
NP_001394382.1:p.Ser2496Ala
NP_001394383.1:p.Ser2472Ala
NP_001394384.1:p.Ser2472Ala
NP_001394385.1:p.Ser2472Ala
NP_001394386.1:p.Ser2472Ala
NP_001394387.1:p.Ser2454Ala
NP_001394388.1:p.Ser2454Ala
NP_001394389.1:p.Ser2454Ala
NP_001394396.1:p.Ser2426Ala
NP_001394398.1:p.Ser2426Ala
NP_001394399.1:p.Ser2272Ala
NP_001394400.1:p.Ser2171Ala
NP_001394401.1:p.Ser2171Ala
LRG_130t1:c.7663T>G
LRG_130t2:c.7663T>G
LRG_130t3:c.7663T>G
LRG_130:g.155737T>G
LRG_130p1:p.Ser2555Ala
LRG_130p2:p.Ser2555Ala
LRG_130p3:p.Ser2555Ala
NC_000005.9:g.112178954T>G
NM_000038.4:c.7663T>G
NM_000038.5:c.7663T>G
NM_001127510.1:c.7663T>G
NM_001127511.1:c.7663T>G
NR_176365.1:n.7498T>G
NR_176366.1:n.7917T>G

Protein change:

S2171A

Molecular consequence:

NM_000038.6:c.7663T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001127510.3:c.7663T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001127511.3:c.7609T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354895.2:c.7663T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354896.2:c.7717T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354897.2:c.7693T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354898.2:c.7588T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354899.2:c.7579T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354900.2:c.7540T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354901.2:c.7486T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354902.2:c.7390T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354903.2:c.7360T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354904.2:c.7285T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354905.2:c.7183T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354906.2:c.6814T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407446.1:c.7747T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407447.1:c.7717T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407448.1:c.7717T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407449.1:c.7717T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407450.1:c.7663T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407451.1:c.7642T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407452.1:c.7633T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407453.1:c.7486T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407454.1:c.7414T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407455.1:c.7414T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407456.1:c.7414T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407457.1:c.7414T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407458.1:c.7360T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407459.1:c.7360T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407460.1:c.7360T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407467.1:c.7276T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407469.1:c.7276T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407470.1:c.6814T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407471.1:c.6511T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407472.1:c.6511T>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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002669440	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Oct 17, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002669440

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Oct 17, 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, SCV002669440.2

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

Description

The p.S2555A variant (also known as c.7663T>G), located in coding exon 15 of the APC gene, results from a T to G substitution at nucleotide position 7663. The serine at codon 2555 is replaced by alanine, an amino acid with similar 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

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