NM_000038.6(APC):c.2186del (p.Leu729fs) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Aug 12, 2020
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:: RCV001508526.5

Allele description [Variation Report for NM_000038.6(APC):c.2186del (p.Leu729fs)]

NM_000038.6(APC):c.2186del (p.Leu729fs)

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.2186del (p.Leu729fs)

HGVS:

NC_000005.10:g.112837780del
NG_008481.4:g.150260del
NM_000038.6:c.2186delMANE SELECT
NM_001127510.3:c.2186del
NM_001127511.3:c.2132del
NM_001354895.2:c.2186del
NM_001354896.2:c.2240del
NM_001354897.2:c.2216del
NM_001354898.2:c.2111del
NM_001354899.2:c.2102del
NM_001354900.2:c.2063del
NM_001354901.2:c.2009del
NM_001354902.2:c.1913del
NM_001354903.2:c.1883del
NM_001354904.2:c.1808del
NM_001354905.2:c.1706del
NM_001354906.2:c.1337del
NP_000029.2:p.Leu729fs
NP_001120982.1:p.Leu729fs
NP_001120983.2:p.Leu711fs
NP_001341824.1:p.Leu729fs
NP_001341825.1:p.Leu747fs
NP_001341826.1:p.Leu739fs
NP_001341827.1:p.Leu704fs
NP_001341828.1:p.Leu701fs
NP_001341829.1:p.Leu688fs
NP_001341830.1:p.Leu670fs
NP_001341831.1:p.Leu638fs
NP_001341832.1:p.Leu628fs
NP_001341833.1:p.Leu603fs
NP_001341834.1:p.Leu569fs
NP_001341835.1:p.Leu446fs
LRG_130:g.150260del
NC_000005.9:g.112173477del
NM_000038.5:c.2186delT
p.Leu729Profs*32

Protein change:

L446fs

Links:

dbSNP: rs2149862736

NCBI 1000 Genomes Browser:

rs2149862736

Molecular consequence:

NM_000038.6:c.2186del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001127510.3:c.2186del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001127511.3:c.2132del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354895.2:c.2186del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354896.2:c.2240del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354897.2:c.2216del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354898.2:c.2111del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354899.2:c.2102del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354900.2:c.2063del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354901.2:c.2009del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354902.2:c.1913del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354903.2:c.1883del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354904.2:c.1808del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354905.2:c.1706del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354906.2:c.1337del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001714743	Mayo Clinic Laboratories, Mayo Clinic	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Aug 12, 2020)	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

SCV001714743

Mayo Clinic Laboratories, Mayo Clinic

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Aug 12, 2020)

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	not provided	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 Mayo Clinic Laboratories, Mayo Clinic, SCV001714743.1

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

Description

PVS1_Strong, PM2

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

Last Updated: May 1, 2024

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