NM_000038.6(APC):c.7783A>G (p.Ile2595Val) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 25, 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:: RCV002409830.2

Allele description [Variation Report for NM_000038.6(APC):c.7783A>G (p.Ile2595Val)]

NM_000038.6(APC):c.7783A>G (p.Ile2595Val)

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.7783A>G (p.Ile2595Val)

HGVS:

NC_000005.10:g.112843377A>G
NG_008481.4:g.155857A>G
NM_000038.6:c.7783A>GMANE SELECT
NM_001127510.3:c.7783A>G
NM_001127511.3:c.7729A>G
NM_001354895.2:c.7783A>G
NM_001354896.2:c.7837A>G
NM_001354897.2:c.7813A>G
NM_001354898.2:c.7708A>G
NM_001354899.2:c.7699A>G
NM_001354900.2:c.7660A>G
NM_001354901.2:c.7606A>G
NM_001354902.2:c.7510A>G
NM_001354903.2:c.7480A>G
NM_001354904.2:c.7405A>G
NM_001354905.2:c.7303A>G
NM_001354906.2:c.6934A>G
NM_001407446.1:c.7867A>G
NM_001407447.1:c.7837A>G
NM_001407448.1:c.7837A>G
NM_001407449.1:c.7837A>G
NM_001407450.1:c.7783A>G
NM_001407451.1:c.7762A>G
NM_001407452.1:c.7753A>G
NM_001407453.1:c.7606A>G
NM_001407454.1:c.7534A>G
NM_001407455.1:c.7534A>G
NM_001407456.1:c.7534A>G
NM_001407457.1:c.7534A>G
NM_001407458.1:c.7480A>G
NM_001407459.1:c.7480A>G
NM_001407460.1:c.7480A>G
NM_001407467.1:c.7396A>G
NM_001407469.1:c.7396A>G
NM_001407470.1:c.6934A>G
NM_001407471.1:c.6631A>G
NM_001407472.1:c.6631A>G
NP_000029.2:p.Ile2595Val
NP_000029.2:p.Ile2595Val
NP_001120982.1:p.Ile2595Val
NP_001120982.1:p.Ile2595Val
NP_001120983.1:p.Ile2595Val
NP_001120983.2:p.Ile2577Val
NP_001341824.1:p.Ile2595Val
NP_001341825.1:p.Ile2613Val
NP_001341826.1:p.Ile2605Val
NP_001341827.1:p.Ile2570Val
NP_001341828.1:p.Ile2567Val
NP_001341829.1:p.Ile2554Val
NP_001341830.1:p.Ile2536Val
NP_001341831.1:p.Ile2504Val
NP_001341832.1:p.Ile2494Val
NP_001341833.1:p.Ile2469Val
NP_001341834.1:p.Ile2435Val
NP_001341835.1:p.Ile2312Val
NP_001394375.1:p.Ile2623Val
NP_001394376.1:p.Ile2613Val
NP_001394377.1:p.Ile2613Val
NP_001394378.1:p.Ile2613Val
NP_001394379.1:p.Ile2595Val
NP_001394380.1:p.Ile2588Val
NP_001394381.1:p.Ile2585Val
NP_001394382.1:p.Ile2536Val
NP_001394383.1:p.Ile2512Val
NP_001394384.1:p.Ile2512Val
NP_001394385.1:p.Ile2512Val
NP_001394386.1:p.Ile2512Val
NP_001394387.1:p.Ile2494Val
NP_001394388.1:p.Ile2494Val
NP_001394389.1:p.Ile2494Val
NP_001394396.1:p.Ile2466Val
NP_001394398.1:p.Ile2466Val
NP_001394399.1:p.Ile2312Val
NP_001394400.1:p.Ile2211Val
NP_001394401.1:p.Ile2211Val
LRG_130t1:c.7783A>G
LRG_130t2:c.7783A>G
LRG_130t3:c.7783A>G
LRG_130:g.155857A>G
LRG_130p1:p.Ile2595Val
LRG_130p2:p.Ile2595Val
LRG_130p3:p.Ile2595Val
NC_000005.9:g.112179074A>G
NM_000038.4:c.7783A>G
NM_000038.5:c.7783A>G
NM_001127510.1:c.7783A>G
NM_001127511.1:c.7783A>G
NR_176365.1:n.7618A>G
NR_176366.1:n.8037A>G

Protein change:

I2211V

Molecular consequence:

NM_000038.6:c.7783A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001127510.3:c.7783A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001127511.3:c.7729A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354895.2:c.7783A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354896.2:c.7837A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354897.2:c.7813A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354898.2:c.7708A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354899.2:c.7699A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354900.2:c.7660A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354901.2:c.7606A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354902.2:c.7510A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354903.2:c.7480A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354904.2:c.7405A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354905.2:c.7303A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354906.2:c.6934A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407446.1:c.7867A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407447.1:c.7837A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407448.1:c.7837A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407449.1:c.7837A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407450.1:c.7783A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407451.1:c.7762A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407452.1:c.7753A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407453.1:c.7606A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407454.1:c.7534A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407455.1:c.7534A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407456.1:c.7534A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407457.1:c.7534A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407458.1:c.7480A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407459.1:c.7480A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407460.1:c.7480A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407467.1:c.7396A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407469.1:c.7396A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407470.1:c.6934A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407471.1:c.6631A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407472.1:c.6631A>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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DNA replication complex GINS protein PSF3 isoform b [Homo sapiens]
DNA replication complex GINS protein PSF3 isoform b [Homo sapiens]
gi|21362088|ref|NP_073607.2|

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002674703	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Sep 25, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002674703

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Sep 25, 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, SCV002674703.2

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

Description

The p.I2595V variant (also known as c.7783A>G), located in coding exon 15 of the APC gene, results from an A to G substitution at nucleotide position 7783. The isoleucine at codon 2595 is replaced by valine, an amino acid with highly similar properties. This amino acid position is conserved. 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 7, 2024

ClinVar

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