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NM_001127511.3(APC):c.-152C>T AND not provided

Germline classification:
Benign (1 submission)
Last evaluated:
Jul 1, 2024
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:
RCV002060337.24

Allele description [Variation Report for NM_001127511.3(APC):c.-152C>T]

NM_001127511.3(APC):c.-152C>T

Gene:
APC:APC regulator of WNT signaling pathway [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q22.2
Genomic location:
Preferred name:
NM_001127511.3(APC):c.-152C>T
HGVS:
  • NC_000005.10:g.112707566C>T
  • NG_008481.4:g.20046C>T
  • NG_173817.1:g.189C>T
  • NM_001127511.3:c.-152C>T
  • NM_001354895.2:c.-335C>T
  • NM_001354897.2:c.-152C>T
  • NM_001354902.2:c.-152C>T
  • NM_001407446.1:c.-152C>T
  • NM_001407447.1:c.-335C>T
  • NM_001407448.1:c.-102C>T
  • NM_001407450.1:c.-102C>T
  • NM_001407452.1:c.-335C>T
  • NM_001407453.1:c.-126C>T
  • NM_001407456.1:c.-335C>T
  • NM_001407457.1:c.-102C>T
  • NM_001407458.1:c.-102C>T
  • NM_001407460.1:c.-335C>T
  • NM_001407469.1:c.-335C>T
  • NM_001407470.1:c.-1370C>T
  • NM_001407472.1:c.-1370C>T
  • LRG_130t3:c.-335C>T
  • LRG_130:g.20046C>T
  • NC_000005.9:g.112043263C>T
  • NM_000038.5:c.-30378C>T
  • NM_001127511.1:c.-335C>T
  • NR_176365.1:n.69C>T
  • NR_176366.1:n.69C>T
Links:
dbSNP: rs138386816
NCBI 1000 Genomes Browser:
rs138386816
Molecular consequence:
  • NM_001127511.3:c.-152C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354895.2:c.-335C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354897.2:c.-152C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354902.2:c.-152C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407446.1:c.-152C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407447.1:c.-335C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407448.1:c.-102C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407450.1:c.-102C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407452.1:c.-335C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407453.1:c.-126C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407456.1:c.-335C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407457.1:c.-102C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407458.1:c.-102C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407460.1:c.-335C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407469.1:c.-335C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407470.1:c.-1370C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407472.1:c.-1370C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NR_176365.1:n.69C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_176366.1:n.69C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
51

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002497334CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)		Benign
(Jul 1, 2024) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes51not providednot providednot providednot providedclinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV002497334.18

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided51not providednot providedclinical testingnot provided

Description

APC: BS1, BS2

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided51not providednot providednot provided

Last Updated: Nov 10, 2024