NM_000038.6(APC):c.7143_7146del (p.Thr2382fs) AND Familial adenomatous polyposis 1

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:: RCV003337269.1

Allele description [Variation Report for NM_000038.6(APC):c.7143_7146del (p.Thr2382fs)]

NM_000038.6(APC):c.7143_7146del (p.Thr2382fs)

Gene:

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

Variant type:

Microsatellite

Cytogenetic location:

5q22.2

Genomic location:

Preferred name:

NM_000038.6(APC):c.7143_7146del (p.Thr2382fs)

HGVS:

NC_000005.10:g.112842733AACA[1]
NG_008481.4:g.155213AACA[1]
NM_000038.5:c.7143_7146del
NM_000038.6:c.7143_7146delMANE SELECT
NM_001127510.3:c.7143_7146del
NM_001127511.3:c.7089_7092del
NM_001354895.2:c.7143_7146del
NM_001354896.2:c.7197_7200del
NM_001354897.2:c.7173_7176del
NM_001354898.2:c.7068_7071del
NM_001354899.2:c.7059_7062del
NM_001354900.2:c.7020_7023del
NM_001354901.2:c.6966_6969del
NM_001354902.2:c.6870_6873del
NM_001354903.2:c.6840_6843del
NM_001354904.2:c.6765_6768del
NM_001354905.2:c.6663_6666del
NM_001354906.2:c.6294_6297del
NP_000029.2:p.Thr2382fs
NP_001120982.1:p.Thr2382fs
NP_001120983.2:p.Thr2364fs
NP_001341824.1:p.Thr2382fs
NP_001341825.1:p.Thr2400fs
NP_001341826.1:p.Thr2392fs
NP_001341827.1:p.Thr2357fs
NP_001341828.1:p.Thr2354fs
NP_001341829.1:p.Thr2341fs
NP_001341830.1:p.Thr2323fs
NP_001341831.1:p.Thr2291fs
NP_001341832.1:p.Thr2281fs
NP_001341833.1:p.Thr2256fs
NP_001341834.1:p.Thr2222fs
NP_001341835.1:p.Thr2099fs
LRG_130:g.155213AACA[1]
NC_000005.9:g.112178430AACA[1]
NM_000038.5:c.7143_7146delAACA

Protein change:

T2099fs

Links:

dbSNP: rs886039687

NCBI 1000 Genomes Browser:

rs886039687

Molecular consequence:

NM_000038.6:c.7143_7146del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001127510.3:c.7143_7146del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001127511.3:c.7089_7092del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354895.2:c.7143_7146del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354896.2:c.7197_7200del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354897.2:c.7173_7176del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354898.2:c.7068_7071del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354899.2:c.7059_7062del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354900.2:c.7020_7023del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354901.2:c.6966_6969del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354902.2:c.6870_6873del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354903.2:c.6840_6843del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354904.2:c.6765_6768del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354905.2:c.6663_6666del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354906.2:c.6294_6297del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV004043492	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

SCV004043492

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., SCV004043492.2

#	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 26, 2024

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