NM_000038.6(APC):c.7783A>G (p.Ile2595Val) AND Classic or attenuated familial adenomatous polyposis

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 4, 2023
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:: RCV004005756.2

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]

Observations:

Condition(s)

Name:: Classic or attenuated familial adenomatous polyposis
Identifiers:: MONDO: MONDO:0021057; MedGen: CN372698

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
SCV004830419	All of Us Research Program, National Institutes of Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain Significance (Sep 4, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004830419

All of Us Research Program, National Institutes of Health

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain Significance
(Sep 4, 2023)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	108544	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From All of Us Research Program, National Institutes of Health, SCV004830419.1

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

Description

This missense variant replaces isoleucine with valine at codon 2595 of the APC protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with APC-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	108544	not provided	not provided		1	not provided	not provided	not provided

Last Updated: May 7, 2024

ClinVar

Relating variation to medicine