NM_000038.6(APC):c.5026_5028del (p.Arg1676del) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 30, 2018
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:: RCV000780835.9

Allele description [Variation Report for NM_000038.6(APC):c.5026_5028del (p.Arg1676del)]

NM_000038.6(APC):c.5026_5028del (p.Arg1676del)

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.5026_5028del (p.Arg1676del)

HGVS:

NC_000005.10:g.112840620_112840622del
NG_008481.4:g.153100_153102del
NM_000038.6:c.5026_5028delMANE SELECT
NM_001127510.3:c.5026_5028del
NM_001127511.3:c.4972_4974del
NM_001354895.2:c.5026_5028del
NM_001354896.2:c.5080_5082del
NM_001354897.2:c.5056_5058del
NM_001354898.2:c.4951_4953del
NM_001354899.2:c.4942_4944del
NM_001354900.2:c.4903_4905del
NM_001354901.2:c.4849_4851del
NM_001354902.2:c.4753_4755del
NM_001354903.2:c.4723_4725del
NM_001354904.2:c.4648_4650del
NM_001354905.2:c.4546_4548del
NM_001354906.2:c.4177_4179del
NP_000029.2:p.Arg1676del
NP_001120982.1:p.Arg1676del
NP_001120983.2:p.Arg1658del
NP_001341824.1:p.Arg1676del
NP_001341825.1:p.Arg1694del
NP_001341826.1:p.Arg1686del
NP_001341827.1:p.Arg1651del
NP_001341828.1:p.Arg1648del
NP_001341829.1:p.Arg1635del
NP_001341830.1:p.Arg1617del
NP_001341831.1:p.Arg1585del
NP_001341832.1:p.Arg1575del
NP_001341833.1:p.Arg1550del
NP_001341834.1:p.Arg1516del
NP_001341835.1:p.Arg1393del
LRG_130:g.153100_153102del
NC_000005.9:g.112176317_112176319del
NM_000038.5:c.5026_5028del
NM_000038.5:c.5026_5028delAGA

Protein change:

R1393del

Links:

dbSNP: rs768369050

NCBI 1000 Genomes Browser:

rs768369050

Molecular consequence:

NM_000038.6:c.5026_5028del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001127510.3:c.5026_5028del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001127511.3:c.4972_4974del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001354895.2:c.5026_5028del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001354896.2:c.5080_5082del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001354897.2:c.5056_5058del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001354898.2:c.4951_4953del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001354899.2:c.4942_4944del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001354900.2:c.4903_4905del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001354901.2:c.4849_4851del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001354902.2:c.4753_4755del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001354903.2:c.4723_4725del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001354904.2:c.4648_4650del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001354905.2:c.4546_4548del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001354906.2:c.4177_4179del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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
SCV000918435	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Uncertain significance (Mar 30, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000918435

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Uncertain significance
(Mar 30, 2018)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000918435.1

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

Description

Variant summary: APC c.5026_5028delAGA (p.Arg1676del) results in an in-frame deletion that is predicted to remove Arg1676 from the encoded protein. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.5026_5028delAGA in individuals affected with Familial Adenomatous Polyposis and no experimental evidence demonstrating its impact on protein function have been reported. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.

#	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		not provided	not provided	not provided	not provided

Last Updated: Oct 13, 2024

ClinVar

Relating variation to medicine