U.S. flag

An official website of the United States government

NM_020975.6(RET):c.-5G>C AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 2, 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:
RCV002358002.1

Allele description [Variation Report for NM_020975.6(RET):c.-5G>C]

NM_020975.6(RET):c.-5G>C

Genes:
LOC106736614:RET 5' regulatory region [Gene]
RET:ret proto-oncogene [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q11.21
Genomic location:
Preferred name:
NM_020975.6(RET):c.-5G>C
HGVS:
  • NC_000010.11:g.43077254G>C
  • NG_007489.1:g.5186G>C
  • NG_045003.1:g.4441G>C
  • NM_000323.2:c.-5G>C
  • NM_001406743.1:c.-5G>C
  • NM_001406744.1:c.-5G>C
  • NM_001406759.1:c.-5G>C
  • NM_001406760.1:c.-5G>C
  • NM_001406761.1:c.-5G>C
  • NM_001406762.1:c.-5G>C
  • NM_001406763.1:c.-5G>C
  • NM_001406764.1:c.-5G>C
  • NM_001406765.1:c.-5G>C
  • NM_001406766.1:c.-5G>C
  • NM_001406767.1:c.-5G>C
  • NM_001406768.1:c.-5G>C
  • NM_001406769.1:c.-5G>C
  • NM_001406770.1:c.-5G>C
  • NM_001406771.1:c.-5G>C
  • NM_001406772.1:c.-5G>C
  • NM_001406773.1:c.-5G>C
  • NM_001406774.1:c.-5G>C
  • NM_001406775.1:c.-5G>C
  • NM_001406776.1:c.-5G>C
  • NM_001406777.1:c.-5G>C
  • NM_001406778.1:c.-5G>C
  • NM_001406779.1:c.-5G>C
  • NM_001406780.1:c.-5G>C
  • NM_001406781.1:c.-5G>C
  • NM_001406782.1:c.-5G>C
  • NM_001406783.1:c.-5G>C
  • NM_001406784.1:c.-5G>C
  • NM_001406785.1:c.-5G>C
  • NM_001406786.1:c.-5G>C
  • NM_001406787.1:c.-5G>C
  • NM_001406788.1:c.-5G>C
  • NM_001406789.1:c.-5G>C
  • NM_001406790.1:c.-5G>C
  • NM_001406791.1:c.-5G>C
  • NM_001406792.1:c.-5G>C
  • NM_001406793.1:c.-5G>C
  • NM_001406794.1:c.-5G>C
  • NM_020629.2:c.-5G>C
  • NM_020630.7:c.-5G>C
  • NM_020975.6:c.-5G>CMANE SELECT
  • LRG_518t1:c.-5G>C
  • LRG_518t2:c.-5G>C
  • LRG_518:g.5186G>C
  • NC_000010.10:g.43572702G>C
  • NM_020630.4:c.-5G>C
  • NM_020630.6:c.-5G>C
  • NM_020975.4:c.-5G>C
Molecular consequence:
  • NM_020975.6:c.-5G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
Observations:
1

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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
SCV002657567Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Uncertain significance
(Sep 2, 2020) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV002657567.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The c.-5G>C variant is located in the 5' untranslated region (5’ UTR) of the RET gene. This variant results from a G to C substitution 5 bases upstream from the first translated codon. This nucleotide position is well conserved on limited sequence alignment. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Dec 24, 2023