NM_020975.6(RET):c.59_61dup (p.Pro20_Leu21insPro) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 14, 2017
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:: RCV000479274.3

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)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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cytochrome b (mitochondrion) [Chlorospingus parvirostris medianus]
cytochrome b (mitochondrion) [Chlorospingus parvirostris medianus]
gi|226511054|gb|ACO60032.1|

Protein
Pkig protein kinase inhibitor, gamma [Mus musculus]
Pkig protein kinase inhibitor, gamma [Mus musculus]
Gene ID:18769

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000573336	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Uncertain significance (Feb 14, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000573336

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Uncertain significance
(Feb 14, 2017)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000573336.3

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

Description

The c.59_61dupCGC variant has not, to our knowledge, been published in the literature as pathogenic or benign. This in-frame duplication of three nucleotides in occurs in a region that is not conserved and is not located in a known functional domain. Since in-frame duplications may or may not inhibit proper protein functioning, the clinical significance of this finding remains unclear at this time and we consider c.59_61dupCGC to be a variant of uncertain significance.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine