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NM_020975.6(RET):c.59_61dup (p.Pro20_Leu21insPro) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 24, 2022
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:
RCV002356788.2

Allele description [Variation Report for NM_020975.6(RET):c.59_61dup (p.Pro20_Leu21insPro)]

NM_020975.6(RET):c.59_61dup (p.Pro20_Leu21insPro)

Gene:
RET:ret proto-oncogene [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
10q11.21
Genomic location:
Preferred name:
NM_020975.6(RET):c.59_61dup (p.Pro20_Leu21insPro)
HGVS:
  • NC_000010.11:g.43077317_43077319dup
  • NG_007489.1:g.5249_5251dup
  • NG_045003.1:g.4504_4506dup
  • NM_000323.2:c.59_61dup
  • NM_001406743.1:c.59_61dup
  • NM_001406744.1:c.59_61dup
  • NM_001406759.1:c.59_61dup
  • NM_001406760.1:c.59_61dup
  • NM_001406761.1:c.59_61dup
  • NM_001406762.1:c.59_61dup
  • NM_001406763.1:c.59_61dup
  • NM_001406764.1:c.59_61dup
  • NM_001406765.1:c.59_61dup
  • NM_001406766.1:c.59_61dup
  • NM_001406767.1:c.59_61dup
  • NM_001406768.1:c.59_61dup
  • NM_001406769.1:c.59_61dup
  • NM_001406770.1:c.59_61dup
  • NM_001406771.1:c.59_61dup
  • NM_001406772.1:c.59_61dup
  • NM_001406773.1:c.59_61dup
  • NM_001406774.1:c.59_61dup
  • NM_001406775.1:c.59_61dup
  • NM_001406776.1:c.59_61dup
  • NM_001406777.1:c.59_61dup
  • NM_001406778.1:c.59_61dup
  • NM_001406779.1:c.59_61dup
  • NM_001406780.1:c.59_61dup
  • NM_001406781.1:c.59_61dup
  • NM_001406782.1:c.59_61dup
  • NM_001406783.1:c.59_61dup
  • NM_001406784.1:c.59_61dup
  • NM_001406785.1:c.59_61dup
  • NM_001406786.1:c.59_61dup
  • NM_001406787.1:c.59_61dup
  • NM_001406788.1:c.59_61dup
  • NM_001406789.1:c.59_61dup
  • NM_001406790.1:c.59_61dup
  • NM_001406791.1:c.59_61dup
  • NM_001406792.1:c.59_61dup
  • NM_001406793.1:c.59_61dup
  • NM_001406794.1:c.59_61dup
  • NM_020629.2:c.59_61dup
  • NM_020630.7:c.59_61dup
  • NM_020975.6:c.59_61dupMANE SELECT
  • NP_000314.1:p.Pro20_Leu21insPro
  • NP_001393672.1:p.Pro20_Leu21insPro
  • NP_001393673.1:p.Pro20_Leu21insPro
  • NP_001393688.1:p.Pro20_Leu21insPro
  • NP_001393689.1:p.Pro20_Leu21insPro
  • NP_001393690.1:p.Pro20_Leu21insPro
  • NP_001393691.1:p.Pro20_Leu21insPro
  • NP_001393692.1:p.Pro20_Leu21insPro
  • NP_001393693.1:p.Pro20_Leu21insPro
  • NP_001393694.1:p.Pro20_Leu21insPro
  • NP_001393695.1:p.Pro20_Leu21insPro
  • NP_001393696.1:p.Pro20_Leu21insPro
  • NP_001393697.1:p.Pro20_Leu21insPro
  • NP_001393698.1:p.Pro20_Leu21insPro
  • NP_001393699.1:p.Pro20_Leu21insPro
  • NP_001393700.1:p.Pro20_Leu21insPro
  • NP_001393701.1:p.Pro20_Leu21insPro
  • NP_001393702.1:p.Pro20_Leu21insPro
  • NP_001393703.1:p.Pro20_Leu21insPro
  • NP_001393704.1:p.Pro20_Leu21insPro
  • NP_001393705.1:p.Pro20_Leu21insPro
  • NP_001393706.1:p.Pro20_Leu21insPro
  • NP_001393707.1:p.Pro20_Leu21insPro
  • NP_001393708.1:p.Pro20_Leu21insPro
  • NP_001393709.1:p.Pro20_Leu21insPro
  • NP_001393710.1:p.Pro20_Leu21insPro
  • NP_001393711.1:p.Pro20_Leu21insPro
  • NP_001393712.1:p.Pro20_Leu21insPro
  • NP_001393713.1:p.Pro20_Leu21insPro
  • NP_001393714.1:p.Pro20_Leu21insPro
  • NP_001393715.1:p.Pro20_Leu21insPro
  • NP_001393716.1:p.Pro20_Leu21insPro
  • NP_001393717.1:p.Pro20_Leu21insPro
  • NP_001393718.1:p.Pro20_Leu21insPro
  • NP_001393719.1:p.Pro20_Leu21insPro
  • NP_001393720.1:p.Pro20_Leu21insPro
  • NP_001393721.1:p.Pro20_Leu21insPro
  • NP_001393722.1:p.Pro20_Leu21insPro
  • NP_001393723.1:p.Pro20_Leu21insPro
  • NP_065680.1:p.Pro20_Leu21insPro
  • NP_065681.1:p.Pro20_Leu21insPro
  • NP_065681.1:p.Pro20_Leu21insPro
  • NP_065681.1:p.Pro20_Leu21insPro
  • NP_066124.1:p.Pro20_Leu21insPro
  • NP_066124.1:p.Pro20_Leu21insPro
  • LRG_518t1:c.59_61dup
  • LRG_518t2:c.59_61dup
  • LRG_518:g.5249_5251dup
  • LRG_518p1:p.Pro20_Leu21insPro
  • LRG_518p2:p.Pro20_Leu21insPro
  • NC_000010.10:g.43572762_43572763insGCC
  • NC_000010.10:g.43572765_43572767dup
  • NM_020630.4:c.59_61dup
  • NM_020630.6:c.59_61dup
  • NM_020975.4:c.59_61dup
  • NM_020975.4:c.59_61dup
  • NM_020975.4:c.59_61dupCGC
  • NM_020975.4:c.59_61dupCGC
Links:
dbSNP: rs1064796534
NCBI 1000 Genomes Browser:
rs1064796534
Molecular consequence:
  • NM_000323.2:c.59_61dup - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406743.1:c.59_61dup - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406744.1:c.59_61dup - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406759.1:c.59_61dup - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406760.1:c.59_61dup - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406761.1:c.59_61dup - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406762.1:c.59_61dup - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406763.1:c.59_61dup - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406764.1:c.59_61dup - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406765.1:c.59_61dup - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406766.1:c.59_61dup - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406767.1:c.59_61dup - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406768.1:c.59_61dup - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406769.1:c.59_61dup - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406770.1:c.59_61dup - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406771.1:c.59_61dup - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406772.1:c.59_61dup - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406773.1:c.59_61dup - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406774.1:c.59_61dup - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406775.1:c.59_61dup - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406776.1:c.59_61dup - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406777.1:c.59_61dup - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406778.1:c.59_61dup - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406779.1:c.59_61dup - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406780.1:c.59_61dup - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406781.1:c.59_61dup - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406782.1:c.59_61dup - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406783.1:c.59_61dup - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406784.1:c.59_61dup - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406785.1:c.59_61dup - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406786.1:c.59_61dup - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406787.1:c.59_61dup - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406788.1:c.59_61dup - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406789.1:c.59_61dup - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406790.1:c.59_61dup - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406791.1:c.59_61dup - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406792.1:c.59_61dup - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406793.1:c.59_61dup - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406794.1:c.59_61dup - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_020629.2:c.59_61dup - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_020630.7:c.59_61dup - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_020975.6:c.59_61dup - inframe_insertion - [Sequence Ontology: SO:0001821]

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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002653657Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 24, 2022) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002653657.2

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

Description

The c.59_61dupCGC variant (also known as p.P20dup), located in coding exon 1 of the RET gene, results from an in-frame duplication of CGC at nucleotide positions 59 to 61. This results in the duplication of an extra proline residue between codons 20 and 21. This amino acid position is well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024