NM_000038.6(APC):c.7663_7666del (p.Ser2555fs) 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:: RCV003337496.1

Allele description

NM_000038.6(APC):c.7663_7666del (p.Ser2555fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

5q22.2

Genomic location:

Preferred name:

NM_000038.6(APC):c.7663_7666del (p.Ser2555fs)

HGVS:

NC_000005.10:g.112843257_112843260del
NG_008481.4:g.155737_155740del
NM_000038.6:c.7663_7666delMANE SELECT
NM_001127510.3:c.7663_7666del
NM_001127511.3:c.7609_7612del
NM_001354895.2:c.7663_7666del
NM_001354896.2:c.7717_7720del
NM_001354897.2:c.7693_7696del
NM_001354898.2:c.7588_7591del
NM_001354899.2:c.7579_7582del
NM_001354900.2:c.7540_7543del
NM_001354901.2:c.7486_7489del
NM_001354902.2:c.7390_7393del
NM_001354903.2:c.7360_7363del
NM_001354904.2:c.7285_7288del
NM_001354905.2:c.7183_7186del
NM_001354906.2:c.6814_6817del
NM_001407446.1:c.7747_7750del
NM_001407447.1:c.7717_7720del
NM_001407448.1:c.7717_7720del
NM_001407449.1:c.7717_7720del
NM_001407450.1:c.7663_7666del
NM_001407451.1:c.7642_7645del
NM_001407452.1:c.7633_7636del
NM_001407453.1:c.7486_7489del
NM_001407454.1:c.7414_7417del
NM_001407455.1:c.7414_7417del
NM_001407456.1:c.7414_7417del
NM_001407457.1:c.7414_7417del
NM_001407458.1:c.7360_7363del
NM_001407459.1:c.7360_7363del
NM_001407460.1:c.7360_7363del
NM_001407467.1:c.7276_7279del
NM_001407469.1:c.7276_7279del
NM_001407470.1:c.6814_6817del
NM_001407471.1:c.6511_6514del
NM_001407472.1:c.6511_6514del
NP_000029.2:p.Ser2555Hisfs
NP_000029.2:p.Ser2555fs
NP_001120982.1:p.Ser2555Hisfs
NP_001120982.1:p.Ser2555fs
NP_001120983.1:p.Ser2555Hisfs
NP_001120983.2:p.Ser2537fs
NP_001341824.1:p.Ser2555fs
NP_001341825.1:p.Ser2573fs
NP_001341826.1:p.Ser2565fs
NP_001341827.1:p.Ser2530fs
NP_001341828.1:p.Ser2527fs
NP_001341829.1:p.Ser2514fs
NP_001341830.1:p.Ser2496fs
NP_001341831.1:p.Ser2464fs
NP_001341832.1:p.Ser2454fs
NP_001341833.1:p.Ser2429fs
NP_001341834.1:p.Ser2395fs
NP_001341835.1:p.Ser2272fs
NP_001394375.1:p.Ser2583fs
NP_001394376.1:p.Ser2573fs
NP_001394377.1:p.Ser2573fs
NP_001394378.1:p.Ser2573fs
NP_001394379.1:p.Ser2555fs
NP_001394380.1:p.Ser2548fs
NP_001394381.1:p.Ser2545fs
NP_001394382.1:p.Ser2496fs
NP_001394383.1:p.Ser2472fs
NP_001394384.1:p.Ser2472fs
NP_001394385.1:p.Ser2472fs
NP_001394386.1:p.Ser2472fs
NP_001394387.1:p.Ser2454fs
NP_001394388.1:p.Ser2454fs
NP_001394389.1:p.Ser2454fs
NP_001394396.1:p.Ser2426fs
NP_001394398.1:p.Ser2426fs
NP_001394399.1:p.Ser2272fs
NP_001394400.1:p.Ser2171fs
NP_001394401.1:p.Ser2171fs
LRG_130t1:c.7663_7666del
LRG_130t2:c.7663_7666del
LRG_130t3:c.7663_7666del
LRG_130:g.155737_155740del
LRG_130p1:p.Ser2555Hisfs
LRG_130p2:p.Ser2555Hisfs
LRG_130p3:p.Ser2555Hisfs
NC_000005.9:g.112178954_112178957del
NM_000038.4:c.7663_7666delTCAT
NM_001127510.1:c.7663_7666delTCAT
NM_001127511.1:c.7663_7666delTCAT
NR_176365.1:n.7498_7501del
NR_176366.1:n.7917_7920del

Protein change:

S2171fs

Molecular consequence:

NM_000038.6:c.7663_7666del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001127510.3:c.7663_7666del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001127511.3:c.7609_7612del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354895.2:c.7663_7666del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354896.2:c.7717_7720del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354897.2:c.7693_7696del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354898.2:c.7588_7591del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354899.2:c.7579_7582del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354900.2:c.7540_7543del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354901.2:c.7486_7489del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354902.2:c.7390_7393del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354903.2:c.7360_7363del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354904.2:c.7285_7288del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354905.2:c.7183_7186del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354906.2:c.6814_6817del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407446.1:c.7747_7750del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407447.1:c.7717_7720del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407448.1:c.7717_7720del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407449.1:c.7717_7720del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407450.1:c.7663_7666del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407451.1:c.7642_7645del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407452.1:c.7633_7636del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407453.1:c.7486_7489del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407454.1:c.7414_7417del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407455.1:c.7414_7417del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407456.1:c.7414_7417del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407457.1:c.7414_7417del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407458.1:c.7360_7363del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407459.1:c.7360_7363del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407460.1:c.7360_7363del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407467.1:c.7276_7279del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407469.1:c.7276_7279del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407470.1:c.6814_6817del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407471.1:c.6511_6514del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407472.1:c.6511_6514del - frameshift variant - [Sequence Ontology: SO:0001589]
NR_176365.1:n.7498_7501del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176366.1:n.7917_7920del - 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
SCV004043064	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

SCV004043064

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., SCV004043064.2

#	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: Jun 2, 2024

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Relating variation to medicine