NM_000038.6(APC):c.7202T>A (p.Leu2401Gln) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 6, 2020
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:: RCV002370871.2

Allele description [Variation Report for NM_000038.6(APC):c.7202T>A (p.Leu2401Gln)]

NM_000038.6(APC):c.7202T>A (p.Leu2401Gln)

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.7202T>A (p.Leu2401Gln)

HGVS:

NC_000005.10:g.112842796T>A
NG_008481.4:g.155276T>A
NM_000038.6:c.7202T>AMANE SELECT
NM_001127510.3:c.7202T>A
NM_001127511.3:c.7148T>A
NM_001354895.2:c.7202T>A
NM_001354896.2:c.7256T>A
NM_001354897.2:c.7232T>A
NM_001354898.2:c.7127T>A
NM_001354899.2:c.7118T>A
NM_001354900.2:c.7079T>A
NM_001354901.2:c.7025T>A
NM_001354902.2:c.6929T>A
NM_001354903.2:c.6899T>A
NM_001354904.2:c.6824T>A
NM_001354905.2:c.6722T>A
NM_001354906.2:c.6353T>A
NM_001407446.1:c.7286T>A
NM_001407447.1:c.7256T>A
NM_001407448.1:c.7256T>A
NM_001407449.1:c.7256T>A
NM_001407450.1:c.7202T>A
NM_001407451.1:c.7181T>A
NM_001407452.1:c.7172T>A
NM_001407453.1:c.7025T>A
NM_001407454.1:c.6953T>A
NM_001407455.1:c.6953T>A
NM_001407456.1:c.6953T>A
NM_001407457.1:c.6953T>A
NM_001407458.1:c.6899T>A
NM_001407459.1:c.6899T>A
NM_001407460.1:c.6899T>A
NM_001407467.1:c.6815T>A
NM_001407469.1:c.6815T>A
NM_001407470.1:c.6353T>A
NM_001407471.1:c.6050T>A
NM_001407472.1:c.6050T>A
NP_000029.2:p.Leu2401Gln
NP_000029.2:p.Leu2401Gln
NP_001120982.1:p.Leu2401Gln
NP_001120982.1:p.Leu2401Gln
NP_001120983.1:p.Leu2401Gln
NP_001120983.2:p.Leu2383Gln
NP_001341824.1:p.Leu2401Gln
NP_001341825.1:p.Leu2419Gln
NP_001341826.1:p.Leu2411Gln
NP_001341827.1:p.Leu2376Gln
NP_001341828.1:p.Leu2373Gln
NP_001341829.1:p.Leu2360Gln
NP_001341830.1:p.Leu2342Gln
NP_001341831.1:p.Leu2310Gln
NP_001341832.1:p.Leu2300Gln
NP_001341833.1:p.Leu2275Gln
NP_001341834.1:p.Leu2241Gln
NP_001341835.1:p.Leu2118Gln
NP_001394375.1:p.Leu2429Gln
NP_001394376.1:p.Leu2419Gln
NP_001394377.1:p.Leu2419Gln
NP_001394378.1:p.Leu2419Gln
NP_001394379.1:p.Leu2401Gln
NP_001394380.1:p.Leu2394Gln
NP_001394381.1:p.Leu2391Gln
NP_001394382.1:p.Leu2342Gln
NP_001394383.1:p.Leu2318Gln
NP_001394384.1:p.Leu2318Gln
NP_001394385.1:p.Leu2318Gln
NP_001394386.1:p.Leu2318Gln
NP_001394387.1:p.Leu2300Gln
NP_001394388.1:p.Leu2300Gln
NP_001394389.1:p.Leu2300Gln
NP_001394396.1:p.Leu2272Gln
NP_001394398.1:p.Leu2272Gln
NP_001394399.1:p.Leu2118Gln
NP_001394400.1:p.Leu2017Gln
NP_001394401.1:p.Leu2017Gln
LRG_130t1:c.7202T>A
LRG_130t2:c.7202T>A
LRG_130t3:c.7202T>A
LRG_130:g.155276T>A
LRG_130p1:p.Leu2401Gln
LRG_130p2:p.Leu2401Gln
LRG_130p3:p.Leu2401Gln
NC_000005.9:g.112178493T>A
NM_000038.4:c.7202T>A
NM_000038.5:c.7202T>A
NM_001127510.1:c.7202T>A
NM_001127511.1:c.7202T>A
NR_176365.1:n.7037T>A
NR_176366.1:n.7456T>A

Protein change:

L2017Q

Molecular consequence:

NM_000038.6:c.7202T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001127510.3:c.7202T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001127511.3:c.7148T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354895.2:c.7202T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354896.2:c.7256T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354897.2:c.7232T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354898.2:c.7127T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354899.2:c.7118T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354900.2:c.7079T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354901.2:c.7025T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354902.2:c.6929T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354903.2:c.6899T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354904.2:c.6824T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354905.2:c.6722T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354906.2:c.6353T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407446.1:c.7286T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407447.1:c.7256T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407448.1:c.7256T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407449.1:c.7256T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407450.1:c.7202T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407451.1:c.7181T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407452.1:c.7172T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407453.1:c.7025T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407454.1:c.6953T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407455.1:c.6953T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407456.1:c.6953T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407457.1:c.6953T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407458.1:c.6899T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407459.1:c.6899T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407460.1:c.6899T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407467.1:c.6815T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407469.1:c.6815T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407470.1:c.6353T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407471.1:c.6050T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407472.1:c.6050T>A - 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

tail fiber protein [Pectobacterium phage PM1]
tail fiber protein [Pectobacterium phage PM1]
gi|602994034|ref|YP_009021836.1|

Protein
B4GALT7 [Rana temporaria]
B4GALT7 [Rana temporaria]
Gene ID:120932174

Gene
LMAN2 [Coturnix japonica]
LMAN2 [Coturnix japonica]
Gene ID:107320473

Gene
Homologene neighbors for GEO Profiles (Select 77136580) (0)
GEO Profiles
Profile neighbors for GEO Profiles (Select 77149519) (55)
GEO Profiles

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
SCV002673424	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Feb 6, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002673424

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Feb 6, 2020)

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, SCV002673424.2

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

Description

The p.L2401Q variant (also known as c.7202T>A), located in coding exon 15 of the APC gene, results from a T to A substitution at nucleotide position 7202. The leucine at codon 2401 is replaced by glutamine, 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: May 1, 2024

ClinVar

Relating variation to medicine