NM_000038.6(APC):c.7199G>A (p.Gly2400Glu) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 17, 2024
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:: RCV004525255.1

Allele description [Variation Report for NM_000038.6(APC):c.7199G>A (p.Gly2400Glu)]

NM_000038.6(APC):c.7199G>A (p.Gly2400Glu)

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.7199G>A (p.Gly2400Glu)

HGVS:

NC_000005.10:g.112842793G>A
NG_008481.4:g.155273G>A
NM_000038.6:c.7199G>AMANE SELECT
NM_001127510.3:c.7199G>A
NM_001127511.3:c.7145G>A
NM_001354895.2:c.7199G>A
NM_001354896.2:c.7253G>A
NM_001354897.2:c.7229G>A
NM_001354898.2:c.7124G>A
NM_001354899.2:c.7115G>A
NM_001354900.2:c.7076G>A
NM_001354901.2:c.7022G>A
NM_001354902.2:c.6926G>A
NM_001354903.2:c.6896G>A
NM_001354904.2:c.6821G>A
NM_001354905.2:c.6719G>A
NM_001354906.2:c.6350G>A
NM_001407446.1:c.7283G>A
NM_001407447.1:c.7253G>A
NM_001407448.1:c.7253G>A
NM_001407449.1:c.7253G>A
NM_001407450.1:c.7199G>A
NM_001407451.1:c.7178G>A
NM_001407452.1:c.7169G>A
NM_001407453.1:c.7022G>A
NM_001407454.1:c.6950G>A
NM_001407455.1:c.6950G>A
NM_001407456.1:c.6950G>A
NM_001407457.1:c.6950G>A
NM_001407458.1:c.6896G>A
NM_001407459.1:c.6896G>A
NM_001407460.1:c.6896G>A
NM_001407467.1:c.6812G>A
NM_001407469.1:c.6812G>A
NM_001407470.1:c.6350G>A
NM_001407471.1:c.6047G>A
NM_001407472.1:c.6047G>A
NP_000029.2:p.Gly2400Glu
NP_000029.2:p.Gly2400Glu
NP_001120982.1:p.Gly2400Glu
NP_001120982.1:p.Gly2400Glu
NP_001120983.1:p.Gly2400Glu
NP_001120983.2:p.Gly2382Glu
NP_001341824.1:p.Gly2400Glu
NP_001341825.1:p.Gly2418Glu
NP_001341826.1:p.Gly2410Glu
NP_001341827.1:p.Gly2375Glu
NP_001341828.1:p.Gly2372Glu
NP_001341829.1:p.Gly2359Glu
NP_001341830.1:p.Gly2341Glu
NP_001341831.1:p.Gly2309Glu
NP_001341832.1:p.Gly2299Glu
NP_001341833.1:p.Gly2274Glu
NP_001341834.1:p.Gly2240Glu
NP_001341835.1:p.Gly2117Glu
NP_001394375.1:p.Gly2428Glu
NP_001394376.1:p.Gly2418Glu
NP_001394377.1:p.Gly2418Glu
NP_001394378.1:p.Gly2418Glu
NP_001394379.1:p.Gly2400Glu
NP_001394380.1:p.Gly2393Glu
NP_001394381.1:p.Gly2390Glu
NP_001394382.1:p.Gly2341Glu
NP_001394383.1:p.Gly2317Glu
NP_001394384.1:p.Gly2317Glu
NP_001394385.1:p.Gly2317Glu
NP_001394386.1:p.Gly2317Glu
NP_001394387.1:p.Gly2299Glu
NP_001394388.1:p.Gly2299Glu
NP_001394389.1:p.Gly2299Glu
NP_001394396.1:p.Gly2271Glu
NP_001394398.1:p.Gly2271Glu
NP_001394399.1:p.Gly2117Glu
NP_001394400.1:p.Gly2016Glu
NP_001394401.1:p.Gly2016Glu
LRG_130t1:c.7199G>A
LRG_130t2:c.7199G>A
LRG_130t3:c.7199G>A
LRG_130:g.155273G>A
LRG_130p1:p.Gly2400Glu
LRG_130p2:p.Gly2400Glu
LRG_130p3:p.Gly2400Glu
NC_000005.9:g.112178490G>A
NM_000038.4:c.7199G>A
NM_000038.5:c.7199G>A
NM_001127510.1:c.7199G>A
NM_001127511.1:c.7199G>A
NR_176365.1:n.7034G>A
NR_176366.1:n.7453G>A

Protein change:

G2016E

Molecular consequence:

NM_000038.6:c.7199G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001127510.3:c.7199G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001127511.3:c.7145G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354895.2:c.7199G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354896.2:c.7253G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354897.2:c.7229G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354898.2:c.7124G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354899.2:c.7115G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354900.2:c.7076G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354901.2:c.7022G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354902.2:c.6926G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354903.2:c.6896G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354904.2:c.6821G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354905.2:c.6719G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354906.2:c.6350G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407446.1:c.7283G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407447.1:c.7253G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407448.1:c.7253G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407449.1:c.7253G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407450.1:c.7199G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407451.1:c.7178G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407452.1:c.7169G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407453.1:c.7022G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407454.1:c.6950G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407455.1:c.6950G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407456.1:c.6950G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407457.1:c.6950G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407458.1:c.6896G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407459.1:c.6896G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407460.1:c.6896G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407467.1:c.6812G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407469.1:c.6812G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407470.1:c.6350G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407471.1:c.6047G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407472.1:c.6047G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_176365.1:n.7034G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176366.1:n.7453G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV005034486	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jan 17, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005034486

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jan 17, 2024)

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, SCV005034486.1

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

Description

The p.G2400E variant (also known as c.7199G>A), located in coding exon 15 of the APC gene, results from a G to A substitution at nucleotide position 7199. The glycine at codon 2400 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is conserved. In addition, in silico predictors for this gene do not accurately predict pathogenicity. Based on the available evidence, 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: May 7, 2024

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