NM_001127511.3(APC):c.166-28469_166-28161del AND not provided

Germline classification:: Uncertain significance (1 submission)
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV001356150.10

Allele description [Variation Report for NM_001127511.3(APC):c.166-28469_166-28161del]

NM_001127511.3(APC):c.166-28469_166-28161del

Gene:

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

Variant type:

Deletion

Cytogenetic location:

5q22.2

Genomic location:

Preferred name:

NM_001127511.3(APC):c.166-28469_166-28161del

HGVS:

NC_000005.10:g.112737857_112738165del
NG_008481.4:g.50337_50645del
NM_001127511.3:c.166-28469_166-28161del
NM_001354895.2:c.-18-17016_-18-16708del
NM_001354897.2:c.166-28469_166-28161del
NM_001354902.2:c.166-28469_166-28161del
NM_001407446.1:c.166-28469_166-28161del
NM_001407447.1:c.-18-17016_-18-16708del
NM_001407448.1:c.-18-17016_-18-16708del
NM_001407450.1:c.-18-17016_-18-16708del
NM_001407452.1:c.-18-17016_-18-16708del
NM_001407453.1:c.-42-28469_-42-28161del
NM_001407456.1:c.-18-17016_-18-16708del
NM_001407457.1:c.-18-17016_-18-16708del
NM_001407458.1:c.-18-17016_-18-16708del
NM_001407460.1:c.-18-17016_-18-16708del
NM_001407469.1:c.-18-17016_-18-16708del
NM_001407470.1:c.-1053-17016_-1053-16708del
NM_001407472.1:c.-1053-17016_-1053-16708del
LRG_130:g.50337_50645del
NC_000005.9:g.112073554_112073862del

Links:

dbSNP: rs2149682229

NCBI 1000 Genomes Browser:

rs2149682229

Molecular consequence:

NM_001127511.3:c.166-28469_166-28161del - intron variant - [Sequence Ontology: SO:0001627]
NM_001354895.2:c.-18-17016_-18-16708del - intron variant - [Sequence Ontology: SO:0001627]
NM_001354897.2:c.166-28469_166-28161del - intron variant - [Sequence Ontology: SO:0001627]
NM_001354902.2:c.166-28469_166-28161del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407446.1:c.166-28469_166-28161del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407447.1:c.-18-17016_-18-16708del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407448.1:c.-18-17016_-18-16708del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407450.1:c.-18-17016_-18-16708del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407452.1:c.-18-17016_-18-16708del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407453.1:c.-42-28469_-42-28161del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407456.1:c.-18-17016_-18-16708del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407457.1:c.-18-17016_-18-16708del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407458.1:c.-18-17016_-18-16708del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407460.1:c.-18-17016_-18-16708del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407469.1:c.-18-17016_-18-16708del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407470.1:c.-1053-17016_-1053-16708del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407472.1:c.-1053-17016_-1053-16708del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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PREDICTED: myb family transcription factor PHL5-like isoform X2 [Camelina sativa...
PREDICTED: myb family transcription factor PHL5-like isoform X2 [Camelina sativa]
gi|727494496|ref|XP_010423297.1|

Protein
PREDICTED: myb family transcription factor PHL5-like isoform X1 [Camelina sativa...
PREDICTED: myb family transcription factor PHL5-like isoform X1 [Camelina sativa]
gi|727494494|ref|XP_010423296.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001551232	Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR) See additional submitters Franklin by Genoox	no assertion criteria provided	Uncertain significance	unknown	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001551232

Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR)

See additional submitters

no assertion criteria provided

Uncertain significance

unknown

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	yes	0	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR), SCV001551232.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	0	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	yes	not provided	not provided	not provided		0	not provided	not provided	not provided

Last Updated: Nov 3, 2024

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