NM_000038.6(APC):c.7682dup (p.Ser2562fs) 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:: RCV003336943.2

Allele description

NM_000038.6(APC):c.7682dup (p.Ser2562fs)

Gene:

APC:APC regulator of WNT signaling pathway [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

5q22.2

Genomic location:

Preferred name:

NM_000038.6(APC):c.7682dup (p.Ser2562fs)

HGVS:

NC_000005.10:g.112843276dup
NG_008481.4:g.155756dup
NM_000038.6:c.7682dupMANE SELECT
NM_001127510.3:c.7682dup
NM_001127511.3:c.7628dup
NM_001354895.2:c.7682dup
NM_001354896.2:c.7736dup
NM_001354897.2:c.7712dup
NM_001354898.2:c.7607dup
NM_001354899.2:c.7598dup
NM_001354900.2:c.7559dup
NM_001354901.2:c.7505dup
NM_001354902.2:c.7409dup
NM_001354903.2:c.7379dup
NM_001354904.2:c.7304dup
NM_001354905.2:c.7202dup
NM_001354906.2:c.6833dup
NM_001407446.1:c.7766dup
NM_001407447.1:c.7736dup
NM_001407448.1:c.7736dup
NM_001407449.1:c.7736dup
NM_001407450.1:c.7682dup
NM_001407451.1:c.7661dup
NM_001407452.1:c.7652dup
NM_001407453.1:c.7505dup
NM_001407454.1:c.7433dup
NM_001407455.1:c.7433dup
NM_001407456.1:c.7433dup
NM_001407457.1:c.7433dup
NM_001407458.1:c.7379dup
NM_001407459.1:c.7379dup
NM_001407460.1:c.7379dup
NM_001407467.1:c.7295dup
NM_001407469.1:c.7295dup
NM_001407470.1:c.6833dup
NM_001407471.1:c.6530dup
NM_001407472.1:c.6530dup
NP_000029.2:p.Ser2562Lysfs
NP_000029.2:p.Ser2562fs
NP_001120982.1:p.Ser2562Lysfs
NP_001120982.1:p.Ser2562fs
NP_001120983.1:p.Ser2562Lysfs
NP_001120983.2:p.Ser2544fs
NP_001341824.1:p.Ser2562fs
NP_001341825.1:p.Ser2580fs
NP_001341826.1:p.Ser2572fs
NP_001341827.1:p.Ser2537fs
NP_001341828.1:p.Ser2534fs
NP_001341829.1:p.Ser2521fs
NP_001341830.1:p.Ser2503fs
NP_001341831.1:p.Ser2471fs
NP_001341832.1:p.Ser2461fs
NP_001341833.1:p.Ser2436fs
NP_001341834.1:p.Ser2402fs
NP_001341835.1:p.Ser2279fs
NP_001394375.1:p.Ser2590fs
NP_001394376.1:p.Ser2580fs
NP_001394377.1:p.Ser2580fs
NP_001394378.1:p.Ser2580fs
NP_001394379.1:p.Ser2562fs
NP_001394380.1:p.Ser2555fs
NP_001394381.1:p.Ser2552fs
NP_001394382.1:p.Ser2503fs
NP_001394383.1:p.Ser2479fs
NP_001394384.1:p.Ser2479fs
NP_001394385.1:p.Ser2479fs
NP_001394386.1:p.Ser2479fs
NP_001394387.1:p.Ser2461fs
NP_001394388.1:p.Ser2461fs
NP_001394389.1:p.Ser2461fs
NP_001394396.1:p.Ser2433fs
NP_001394398.1:p.Ser2433fs
NP_001394399.1:p.Ser2279fs
NP_001394400.1:p.Ser2178fs
NP_001394401.1:p.Ser2178fs
LRG_130t1:c.7682dup
LRG_130t2:c.7682dup
LRG_130t3:c.7682dup
LRG_130:g.155756dup
LRG_130p1:p.Ser2562Lysfs
LRG_130p2:p.Ser2562Lysfs
LRG_130p3:p.Ser2562Lysfs
NC_000005.9:g.112178973dup
NM_000038.4:c.7682dup
NM_001127510.1:c.7682dup
NM_001127511.1:c.7682dup
NR_176365.1:n.7517dup
NR_176366.1:n.7936dup

Protein change:

S2178fs

Molecular consequence:

NM_000038.6:c.7682dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001127510.3:c.7682dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001127511.3:c.7628dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354895.2:c.7682dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354896.2:c.7736dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354897.2:c.7712dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354898.2:c.7607dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354899.2:c.7598dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354900.2:c.7559dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354901.2:c.7505dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354902.2:c.7409dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354903.2:c.7379dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354904.2:c.7304dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354905.2:c.7202dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354906.2:c.6833dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407446.1:c.7766dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407447.1:c.7736dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407448.1:c.7736dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407449.1:c.7736dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407450.1:c.7682dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407451.1:c.7661dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407452.1:c.7652dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407453.1:c.7505dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407454.1:c.7433dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407455.1:c.7433dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407456.1:c.7433dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407457.1:c.7433dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407458.1:c.7379dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407459.1:c.7379dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407460.1:c.7379dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407467.1:c.7295dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407469.1:c.7295dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407470.1:c.6833dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407471.1:c.6530dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407472.1:c.6530dup - frameshift variant - [Sequence Ontology: SO:0001589]
NR_176365.1:n.7517dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176366.1:n.7936dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004043689	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

SCV004043689

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., SCV004043689.2

#	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 frameshift 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