NM_000038.6(APC):c.7765G>T (p.Glu2589Ter) AND Familial adenomatous polyposis 1

delete

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 16, 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:: RCV003337031.2

Allele description

NM_000038.6(APC):c.7765G>T (p.Glu2589Ter)

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.7765G>T (p.Glu2589Ter)

HGVS:

NC_000005.10:g.112843359G>T
NG_008481.4:g.155839G>T
NM_000038.6:c.7765G>TMANE SELECT
NM_001127510.3:c.7765G>T
NM_001127511.3:c.7711G>T
NM_001354895.2:c.7765G>T
NM_001354896.2:c.7819G>T
NM_001354897.2:c.7795G>T
NM_001354898.2:c.7690G>T
NM_001354899.2:c.7681G>T
NM_001354900.2:c.7642G>T
NM_001354901.2:c.7588G>T
NM_001354902.2:c.7492G>T
NM_001354903.2:c.7462G>T
NM_001354904.2:c.7387G>T
NM_001354905.2:c.7285G>T
NM_001354906.2:c.6916G>T
NM_001407446.1:c.7849G>T
NM_001407447.1:c.7819G>T
NM_001407448.1:c.7819G>T
NM_001407449.1:c.7819G>T
NM_001407450.1:c.7765G>T
NM_001407451.1:c.7744G>T
NM_001407452.1:c.7735G>T
NM_001407453.1:c.7588G>T
NM_001407454.1:c.7516G>T
NM_001407455.1:c.7516G>T
NM_001407456.1:c.7516G>T
NM_001407457.1:c.7516G>T
NM_001407458.1:c.7462G>T
NM_001407459.1:c.7462G>T
NM_001407460.1:c.7462G>T
NM_001407467.1:c.7378G>T
NM_001407469.1:c.7378G>T
NM_001407470.1:c.6916G>T
NM_001407471.1:c.6613G>T
NM_001407472.1:c.6613G>T
NP_000029.2:p.Glu2589Ter
NP_000029.2:p.Glu2589Ter
NP_001120982.1:p.Glu2589Ter
NP_001120982.1:p.Glu2589Ter
NP_001120983.1:p.Glu2589Ter
NP_001120983.2:p.Glu2571Ter
NP_001341824.1:p.Glu2589Ter
NP_001341825.1:p.Glu2607Ter
NP_001341826.1:p.Glu2599Ter
NP_001341827.1:p.Glu2564Ter
NP_001341828.1:p.Glu2561Ter
NP_001341829.1:p.Glu2548Ter
NP_001341830.1:p.Glu2530Ter
NP_001341831.1:p.Glu2498Ter
NP_001341832.1:p.Glu2488Ter
NP_001341833.1:p.Glu2463Ter
NP_001341834.1:p.Glu2429Ter
NP_001341835.1:p.Glu2306Ter
NP_001394375.1:p.Glu2617Ter
NP_001394376.1:p.Glu2607Ter
NP_001394377.1:p.Glu2607Ter
NP_001394378.1:p.Glu2607Ter
NP_001394379.1:p.Glu2589Ter
NP_001394380.1:p.Glu2582Ter
NP_001394381.1:p.Glu2579Ter
NP_001394382.1:p.Glu2530Ter
NP_001394383.1:p.Glu2506Ter
NP_001394384.1:p.Glu2506Ter
NP_001394385.1:p.Glu2506Ter
NP_001394386.1:p.Glu2506Ter
NP_001394387.1:p.Glu2488Ter
NP_001394388.1:p.Glu2488Ter
NP_001394389.1:p.Glu2488Ter
NP_001394396.1:p.Glu2460Ter
NP_001394398.1:p.Glu2460Ter
NP_001394399.1:p.Glu2306Ter
NP_001394400.1:p.Glu2205Ter
NP_001394401.1:p.Glu2205Ter
LRG_130t1:c.7765G>T
LRG_130t2:c.7765G>T
LRG_130t3:c.7765G>T
LRG_130:g.155839G>T
LRG_130p1:p.Glu2589Ter
LRG_130p2:p.Glu2589Ter
LRG_130p3:p.Glu2589Ter
NC_000005.9:g.112179056G>T
NM_000038.4:c.7765G>T
NM_001127510.1:c.7765G>T
NM_001127511.1:c.7765G>T
NR_176365.1:n.7600G>T
NR_176366.1:n.8019G>T

Protein change:

E2205*

Molecular consequence:

NR_176365.1:n.7600G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176366.1:n.8019G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_000038.6:c.7765G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001127510.3:c.7765G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001127511.3:c.7711G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001354895.2:c.7765G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001354896.2:c.7819G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001354897.2:c.7795G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001354898.2:c.7690G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001354899.2:c.7681G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001354900.2:c.7642G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001354901.2:c.7588G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001354902.2:c.7492G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001354903.2:c.7462G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001354904.2:c.7387G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001354905.2:c.7285G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001354906.2:c.6916G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407446.1:c.7849G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407447.1:c.7819G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407448.1:c.7819G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407449.1:c.7819G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407450.1:c.7765G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407451.1:c.7744G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407452.1:c.7735G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407453.1:c.7588G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407454.1:c.7516G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407455.1:c.7516G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407456.1:c.7516G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407457.1:c.7516G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407458.1:c.7462G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407459.1:c.7462G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407460.1:c.7462G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407467.1:c.7378G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407469.1:c.7378G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407470.1:c.6916G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407471.1:c.6613G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407472.1:c.6613G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Familial adenomatous polyposis 1 (FAP1)
Synonyms:: POLYPOSIS, ADENOMATOUS INTESTINAL; FAMILIAL ADENOMATOUS POLYPOSIS 1, ATTENUATED; APC-Associated Polyposis Conditions
Identifiers:: MONDO: MONDO:0021056; MedGen: C2713442; OMIM: 175100

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
SCV004044506	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))	Pathogenic (May 16, 2023)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004044506

Myriad Genetics, Inc.

criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))

Pathogenic
(May 16, 2023)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Myriad Genetics, Inc., SCV004044506.2

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

Description

This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.

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

Last Updated: Oct 28, 2023

ClinVar

Relating variation to medicine