U.S. flag

An official website of the United States government

NM_001127511.3(APC):c.-126G>T AND not provided

Germline classification:
Likely benign (1 submission)
Last evaluated:
Dec 30, 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:
RCV001704678.9

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

NM_001127511.3(APC):c.-126G>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.-126G>T
HGVS:
  • NC_000005.10:g.112707592G>T
  • NG_008481.4:g.20072G>T
  • NG_173817.1:g.215G>T
  • NM_001127511.3:c.-126G>T
  • NM_001354895.2:c.-309G>T
  • NM_001354897.2:c.-126G>T
  • NM_001354902.2:c.-126G>T
  • NM_001407446.1:c.-126G>T
  • NM_001407447.1:c.-309G>T
  • NM_001407448.1:c.-76G>T
  • NM_001407450.1:c.-76G>T
  • NM_001407452.1:c.-309G>T
  • NM_001407453.1:c.-100G>T
  • NM_001407456.1:c.-309G>T
  • NM_001407457.1:c.-76G>T
  • NM_001407458.1:c.-76G>T
  • NM_001407460.1:c.-309G>T
  • NM_001407469.1:c.-309G>T
  • NM_001407470.1:c.-1344G>T
  • NM_001407472.1:c.-1344G>T
  • LRG_130t3:c.-309G>T
  • LRG_130:g.20072G>T
  • NC_000005.9:g.112043289G>T
  • NM_000038.5:c.-30352G>T
  • NM_001127511.1:c.-309G>T
  • NR_176365.1:n.95G>T
  • NR_176366.1:n.95G>T
Links:
dbSNP: rs948080320
NCBI 1000 Genomes Browser:
rs948080320
Molecular consequence:
  • NM_001127511.3:c.-126G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354895.2:c.-309G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354897.2:c.-126G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354902.2:c.-126G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407446.1:c.-126G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407447.1:c.-309G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407448.1:c.-76G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407450.1:c.-76G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407452.1:c.-309G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407453.1:c.-100G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407456.1:c.-309G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407457.1:c.-76G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407458.1:c.-76G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407460.1:c.-309G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407469.1:c.-309G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407470.1:c.-1344G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407472.1:c.-1344G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NR_176365.1:n.95G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_176366.1:n.95G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000729872GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Likely benign
(Dec 30, 2020) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000729872.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Has not been previously published as pathogenic or benign to our knowledge; No data available from control populations to assess the frequency of this variant

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

Last Updated: Nov 10, 2024