NM_001127511.3(APC):c.-126dup AND not specified

Germline classification:: Likely benign (1 submission)
Last evaluated:: Aug 15, 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:: RCV002268219.14

Allele description [Variation Report for NM_001127511.3(APC):c.-126dup]

NM_001127511.3(APC):c.-126dup

Gene:

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

Variant type:

Duplication

Cytogenetic location:

5q22.2

Genomic location:

Preferred name:

NM_001127511.3(APC):c.-126dup

HGVS:

NC_000005.10:g.112707592dup
NC_000005.9:g.112043289dupG
NG_008481.4:g.20072dup
NG_173817.1:g.215dup
NM_001127511.3:c.-126dup
NM_001354895.2:c.-309dup
NM_001354897.2:c.-126dup
NM_001354902.2:c.-126dup
NM_001407446.1:c.-126dup
NM_001407447.1:c.-309dup
NM_001407448.1:c.-76dup
NM_001407450.1:c.-76dup
NM_001407452.1:c.-309dup
NM_001407453.1:c.-100dup
NM_001407456.1:c.-309dup
NM_001407457.1:c.-76dup
NM_001407458.1:c.-76dup
NM_001407460.1:c.-309dup
NM_001407469.1:c.-309dup
NM_001407470.1:c.-1344dup
NM_001407472.1:c.-1344dup
LRG_130t3:c.-309dup
LRG_130:g.20072dup
NC_000005.9:g.112043282_112043283insG
NC_000005.9:g.112043289dup
NC_000005.9:g.112043289dup
NM_000038.5:c.-30352dup
NM_001127511.1:c.-309dup
NM_001354897.2:c.-126dupG
NR_176365.1:n.95dup
NR_176366.1:n.95dup

Links:

dbSNP: rs565045828

NCBI 1000 Genomes Browser:

rs565045828

Molecular consequence:

NM_001127511.3:c.-126dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354895.2:c.-309dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354897.2:c.-126dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354902.2:c.-126dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407446.1:c.-126dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407447.1:c.-309dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407448.1:c.-76dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407450.1:c.-76dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407452.1:c.-309dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407453.1:c.-100dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407456.1:c.-309dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407457.1:c.-76dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407458.1:c.-76dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407460.1:c.-309dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407469.1:c.-309dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407470.1:c.-1344dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407472.1:c.-1344dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NR_176365.1:n.95dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176366.1:n.95dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV002550539	Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Aug 15, 2023)	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

SCV002550539

Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign
(Aug 15, 2023)

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	not provided	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 Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, SCV002550539.4

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

#	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: Nov 10, 2024

ClinVar

Relating variation to medicine