NM_020975.6(RET):c.57_65dup (p.Leu22_Gly23insProLeuLeu) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 4, 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:: RCV002347912.3

Allele description [Variation Report for NM_020975.6(RET):c.57_65dup (p.Leu22_Gly23insProLeuLeu)]

NM_020975.6(RET):c.57_65dup (p.Leu22_Gly23insProLeuLeu)

Gene:

RET:ret proto-oncogene [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

10q11.21

Genomic location:

Preferred name:

NM_020975.6(RET):c.57_65dup (p.Leu22_Gly23insProLeuLeu)

HGVS:

NC_000010.11:g.43077315_43077323dup
NG_007489.1:g.5247_5255dup
NG_045003.1:g.4502_4510dup
NM_000323.2:c.57_65dup
NM_001406743.1:c.57_65dup
NM_001406744.1:c.57_65dup
NM_001406759.1:c.57_65dup
NM_001406760.1:c.57_65dup
NM_001406761.1:c.57_65dup
NM_001406762.1:c.57_65dup
NM_001406763.1:c.57_65dup
NM_001406764.1:c.57_65dup
NM_001406765.1:c.57_65dup
NM_001406766.1:c.57_65dup
NM_001406767.1:c.57_65dup
NM_001406768.1:c.57_65dup
NM_001406769.1:c.57_65dup
NM_001406770.1:c.57_65dup
NM_001406771.1:c.57_65dup
NM_001406772.1:c.57_65dup
NM_001406773.1:c.57_65dup
NM_001406774.1:c.57_65dup
NM_001406775.1:c.57_65dup
NM_001406776.1:c.57_65dup
NM_001406777.1:c.57_65dup
NM_001406778.1:c.57_65dup
NM_001406779.1:c.57_65dup
NM_001406780.1:c.57_65dup
NM_001406781.1:c.57_65dup
NM_001406782.1:c.57_65dup
NM_001406783.1:c.57_65dup
NM_001406784.1:c.57_65dup
NM_001406785.1:c.57_65dup
NM_001406786.1:c.57_65dup
NM_001406787.1:c.57_65dup
NM_001406788.1:c.57_65dup
NM_001406789.1:c.57_65dup
NM_001406790.1:c.57_65dup
NM_001406791.1:c.57_65dup
NM_001406792.1:c.57_65dup
NM_001406793.1:c.57_65dup
NM_001406794.1:c.57_65dup
NM_020629.2:c.57_65dup
NM_020630.7:c.57_65dup
NM_020975.6:c.57_65dupMANE SELECT
NP_000314.1:p.Leu22_Gly23insProLeuLeu
NP_001393672.1:p.Leu22_Gly23insProLeuLeu
NP_001393673.1:p.Leu22_Gly23insProLeuLeu
NP_001393688.1:p.Leu22_Gly23insProLeuLeu
NP_001393689.1:p.Leu22_Gly23insProLeuLeu
NP_001393690.1:p.Leu22_Gly23insProLeuLeu
NP_001393691.1:p.Leu22_Gly23insProLeuLeu
NP_001393692.1:p.Leu22_Gly23insProLeuLeu
NP_001393693.1:p.Leu22_Gly23insProLeuLeu
NP_001393694.1:p.Leu22_Gly23insProLeuLeu
NP_001393695.1:p.Leu22_Gly23insProLeuLeu
NP_001393696.1:p.Leu22_Gly23insProLeuLeu
NP_001393697.1:p.Leu22_Gly23insProLeuLeu
NP_001393698.1:p.Leu22_Gly23insProLeuLeu
NP_001393699.1:p.Leu22_Gly23insProLeuLeu
NP_001393700.1:p.Leu22_Gly23insProLeuLeu
NP_001393701.1:p.Leu22_Gly23insProLeuLeu
NP_001393702.1:p.Leu22_Gly23insProLeuLeu
NP_001393703.1:p.Leu22_Gly23insProLeuLeu
NP_001393704.1:p.Leu22_Gly23insProLeuLeu
NP_001393705.1:p.Leu22_Gly23insProLeuLeu
NP_001393706.1:p.Leu22_Gly23insProLeuLeu
NP_001393707.1:p.Leu22_Gly23insProLeuLeu
NP_001393708.1:p.Leu22_Gly23insProLeuLeu
NP_001393709.1:p.Leu22_Gly23insProLeuLeu
NP_001393710.1:p.Leu22_Gly23insProLeuLeu
NP_001393711.1:p.Leu22_Gly23insProLeuLeu
NP_001393712.1:p.Leu22_Gly23insProLeuLeu
NP_001393713.1:p.Leu22_Gly23insProLeuLeu
NP_001393714.1:p.Leu22_Gly23insProLeuLeu
NP_001393715.1:p.Leu22_Gly23insProLeuLeu
NP_001393716.1:p.Leu22_Gly23insProLeuLeu
NP_001393717.1:p.Leu22_Gly23insProLeuLeu
NP_001393718.1:p.Leu22_Gly23insProLeuLeu
NP_001393719.1:p.Leu22_Gly23insProLeuLeu
NP_001393720.1:p.Leu22_Gly23insProLeuLeu
NP_001393721.1:p.Leu22_Gly23insProLeuLeu
NP_001393722.1:p.Leu22_Gly23insProLeuLeu
NP_001393723.1:p.Leu22_Gly23insProLeuLeu
NP_065680.1:p.Leu22_Gly23insProLeuLeu
NP_065681.1:p.Leu22_Gly23insProLeuLeu
NP_065681.1:p.Leu22_Gly23insProLeuLeu
NP_065681.1:p.Leu22_Gly23insProLeuLeu
NP_066124.1:p.Leu22_Gly23insProLeuLeu
NP_066124.1:p.Leu22_Gly23insProLeuLeu
LRG_518t1:c.57_65dup
LRG_518t2:c.57_65dup
LRG_518:g.5247_5255dup
LRG_518p1:p.Leu22_Gly23insProLeuLeu
LRG_518p2:p.Leu22_Gly23insProLeuLeu
NC_000010.10:g.43572756_43572757insGCTGCTGCC
NC_000010.10:g.43572763_43572771dup
NM_020630.4:c.57_65dup
NM_020630.6:c.57_65dup
NM_020975.4:c.57_65dup
NM_020975.4:c.57_65dup
NM_020975.4:c.57_65dupGCCGCTGCT
NM_020975.4:c.57_65dupGCCGCTGCT

Links:

dbSNP: rs878855065

NCBI 1000 Genomes Browser:

rs878855065

Molecular consequence:

NM_000323.2:c.57_65dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406743.1:c.57_65dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406744.1:c.57_65dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406759.1:c.57_65dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406760.1:c.57_65dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406761.1:c.57_65dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406762.1:c.57_65dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406763.1:c.57_65dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406764.1:c.57_65dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406765.1:c.57_65dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406766.1:c.57_65dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406767.1:c.57_65dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406768.1:c.57_65dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406769.1:c.57_65dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406770.1:c.57_65dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406771.1:c.57_65dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406772.1:c.57_65dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406773.1:c.57_65dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406774.1:c.57_65dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406775.1:c.57_65dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406776.1:c.57_65dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406777.1:c.57_65dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406778.1:c.57_65dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406779.1:c.57_65dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406780.1:c.57_65dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406781.1:c.57_65dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406782.1:c.57_65dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406783.1:c.57_65dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406784.1:c.57_65dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406785.1:c.57_65dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406786.1:c.57_65dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406787.1:c.57_65dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406788.1:c.57_65dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406789.1:c.57_65dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406790.1:c.57_65dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406791.1:c.57_65dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406792.1:c.57_65dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406793.1:c.57_65dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406794.1:c.57_65dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_020629.2:c.57_65dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_020630.7:c.57_65dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_020975.6:c.57_65dup - 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

Recent activity

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peptidyl-prolyl cis-trans isomerase FKBP42 [Cucumis sativus]
peptidyl-prolyl cis-trans isomerase FKBP42 [Cucumis sativus]
gi|449464000|ref|XP_004149717.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002650571	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Apr 4, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002650571

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Apr 4, 2023)

germline

clinical testing

Citation Link

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

Details of each submission

From Ambry Genetics, SCV002650571.3

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

Description

The c.57_65dupGCCGCTGCT variant (also known as p.P20_L22dup), located in coding exon 1 of the RET gene, results from an in-frame duplication of GCCGCTGCT at nucleotide positions 57 to 65. This results in the duplication of 3 extra residues (PLL) between codons 20 and 22. This amino acid region is well conserved in available vertebrate species. In addition, this alteration is predicted to be neutral by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	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: Sep 29, 2024

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