NM_020975.6(RET):c.5_28dup (p.Ala9_Gly10insAlaLysAlaThrSerGlyAlaAla) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 5, 2024
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:: RCV002350589.5

Allele description [Variation Report for NM_020975.6(RET):c.5_28dup (p.Ala9_Gly10insAlaLysAlaThrSerGlyAlaAla)]

NM_020975.6(RET):c.5_28dup (p.Ala9_Gly10insAlaLysAlaThrSerGlyAlaAla)

Genes:

LOC106736614:RET 5' regulatory region [Gene]
RET:ret proto-oncogene [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

10q11.21

Genomic location:

Preferred name:

NM_020975.6(RET):c.5_28dup (p.Ala9_Gly10insAlaLysAlaThrSerGlyAlaAla)

HGVS:

NC_000010.11:g.43077263_43077286dup
NG_007489.1:g.5195_5218dup
NG_045003.1:g.4450_4473dup
NM_000323.2:c.5_28dup
NM_001406743.1:c.5_28dup
NM_001406744.1:c.5_28dup
NM_001406759.1:c.5_28dup
NM_001406760.1:c.5_28dup
NM_001406761.1:c.5_28dup
NM_001406762.1:c.5_28dup
NM_001406763.1:c.5_28dup
NM_001406764.1:c.5_28dup
NM_001406765.1:c.5_28dup
NM_001406766.1:c.5_28dup
NM_001406767.1:c.5_28dup
NM_001406768.1:c.5_28dup
NM_001406769.1:c.5_28dup
NM_001406770.1:c.5_28dup
NM_001406771.1:c.5_28dup
NM_001406772.1:c.5_28dup
NM_001406773.1:c.5_28dup
NM_001406774.1:c.5_28dup
NM_001406775.1:c.5_28dup
NM_001406776.1:c.5_28dup
NM_001406777.1:c.5_28dup
NM_001406778.1:c.5_28dup
NM_001406779.1:c.5_28dup
NM_001406780.1:c.5_28dup
NM_001406781.1:c.5_28dup
NM_001406782.1:c.5_28dup
NM_001406783.1:c.5_28dup
NM_001406784.1:c.5_28dup
NM_001406785.1:c.5_28dup
NM_001406786.1:c.5_28dup
NM_001406787.1:c.5_28dup
NM_001406788.1:c.5_28dup
NM_001406789.1:c.5_28dup
NM_001406790.1:c.5_28dup
NM_001406791.1:c.5_28dup
NM_001406792.1:c.5_28dup
NM_001406793.1:c.5_28dup
NM_001406794.1:c.5_28dup
NM_020629.2:c.5_28dup
NM_020630.7:c.5_28dup
NM_020975.6:c.5_28dupMANE SELECT
NP_000314.1:p.Ala9_Gly10insAlaLysAlaThrSerGlyAlaAla
NP_001393672.1:p.Ala9_Gly10insAlaLysAlaThrSerGlyAlaAla
NP_001393673.1:p.Ala9_Gly10insAlaLysAlaThrSerGlyAlaAla
NP_001393688.1:p.Ala9_Gly10insAlaLysAlaThrSerGlyAlaAla
NP_001393689.1:p.Ala9_Gly10insAlaLysAlaThrSerGlyAlaAla
NP_001393690.1:p.Ala9_Gly10insAlaLysAlaThrSerGlyAlaAla
NP_001393691.1:p.Ala9_Gly10insAlaLysAlaThrSerGlyAlaAla
NP_001393692.1:p.Ala9_Gly10insAlaLysAlaThrSerGlyAlaAla
NP_001393693.1:p.Ala9_Gly10insAlaLysAlaThrSerGlyAlaAla
NP_001393694.1:p.Ala9_Gly10insAlaLysAlaThrSerGlyAlaAla
NP_001393695.1:p.Ala9_Gly10insAlaLysAlaThrSerGlyAlaAla
NP_001393696.1:p.Ala9_Gly10insAlaLysAlaThrSerGlyAlaAla
NP_001393697.1:p.Ala9_Gly10insAlaLysAlaThrSerGlyAlaAla
NP_001393698.1:p.Ala9_Gly10insAlaLysAlaThrSerGlyAlaAla
NP_001393699.1:p.Ala9_Gly10insAlaLysAlaThrSerGlyAlaAla
NP_001393700.1:p.Ala9_Gly10insAlaLysAlaThrSerGlyAlaAla
NP_001393701.1:p.Ala9_Gly10insAlaLysAlaThrSerGlyAlaAla
NP_001393702.1:p.Ala9_Gly10insAlaLysAlaThrSerGlyAlaAla
NP_001393703.1:p.Ala9_Gly10insAlaLysAlaThrSerGlyAlaAla
NP_001393704.1:p.Ala9_Gly10insAlaLysAlaThrSerGlyAlaAla
NP_001393705.1:p.Ala9_Gly10insAlaLysAlaThrSerGlyAlaAla
NP_001393706.1:p.Ala9_Gly10insAlaLysAlaThrSerGlyAlaAla
NP_001393707.1:p.Ala9_Gly10insAlaLysAlaThrSerGlyAlaAla
NP_001393708.1:p.Ala9_Gly10insAlaLysAlaThrSerGlyAlaAla
NP_001393709.1:p.Ala9_Gly10insAlaLysAlaThrSerGlyAlaAla
NP_001393710.1:p.Ala9_Gly10insAlaLysAlaThrSerGlyAlaAla
NP_001393711.1:p.Ala9_Gly10insAlaLysAlaThrSerGlyAlaAla
NP_001393712.1:p.Ala9_Gly10insAlaLysAlaThrSerGlyAlaAla
NP_001393713.1:p.Ala9_Gly10insAlaLysAlaThrSerGlyAlaAla
NP_001393714.1:p.Ala9_Gly10insAlaLysAlaThrSerGlyAlaAla
NP_001393715.1:p.Ala9_Gly10insAlaLysAlaThrSerGlyAlaAla
NP_001393716.1:p.Ala9_Gly10insAlaLysAlaThrSerGlyAlaAla
NP_001393717.1:p.Ala9_Gly10insAlaLysAlaThrSerGlyAlaAla
NP_001393718.1:p.Ala9_Gly10insAlaLysAlaThrSerGlyAlaAla
NP_001393719.1:p.Ala9_Gly10insAlaLysAlaThrSerGlyAlaAla
NP_001393720.1:p.Ala9_Gly10insAlaLysAlaThrSerGlyAlaAla
NP_001393721.1:p.Ala9_Gly10insAlaLysAlaThrSerGlyAlaAla
NP_001393722.1:p.Ala9_Gly10insAlaLysAlaThrSerGlyAlaAla
NP_001393723.1:p.Ala9_Gly10insAlaLysAlaThrSerGlyAlaAla
NP_065680.1:p.Ala9_Gly10insAlaLysAlaThrSerGlyAlaAla
NP_065681.1:p.Ala9_Gly10insAlaLysAlaThrSerGlyAlaAla
NP_065681.1:p.Ala9_Gly10insAlaLysAlaThrSerGlyAlaAla
NP_065681.1:p.Ala9_Gly10insAlaLysAlaThrSerGlyAlaAla
NP_066124.1:p.Ala9_Gly10insAlaLysAlaThrSerGlyAlaAla
NP_066124.1:p.Ala9_Gly10insAlaLysAlaThrSerGlyAlaAla
LRG_518t1:c.5_28dup
LRG_518t2:c.5_28dup
LRG_518:g.5195_5218dup
LRG_518p1:p.Ala9_Gly10insAlaLysAlaThrSerGlyAlaAla
LRG_518p2:p.Ala9_Gly10insAlaLysAlaThrSerGlyAlaAla
NC_000010.10:g.43572708_43572709insGGCGAAGGCGACGTCCGGTGCCGC
NC_000010.10:g.43572711_43572734dup
NM_020630.4:c.5_28dup
NM_020630.6:c.5_28dup
NM_020975.4:c.5_28dup
NM_020975.4:c.5_28dupCGAAGGCGACGTCCGGTGCCGCGG

Links:

dbSNP: rs1837063549

NCBI 1000 Genomes Browser:

rs1837063549

Molecular consequence:

NM_000323.2:c.5_28dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406743.1:c.5_28dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406744.1:c.5_28dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406759.1:c.5_28dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406760.1:c.5_28dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406761.1:c.5_28dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406762.1:c.5_28dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406763.1:c.5_28dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406764.1:c.5_28dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406765.1:c.5_28dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406766.1:c.5_28dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406767.1:c.5_28dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406768.1:c.5_28dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406769.1:c.5_28dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406770.1:c.5_28dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406771.1:c.5_28dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406772.1:c.5_28dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406773.1:c.5_28dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406774.1:c.5_28dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406775.1:c.5_28dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406776.1:c.5_28dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406777.1:c.5_28dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406778.1:c.5_28dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406779.1:c.5_28dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406780.1:c.5_28dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406781.1:c.5_28dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406782.1:c.5_28dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406783.1:c.5_28dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406784.1:c.5_28dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406785.1:c.5_28dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406786.1:c.5_28dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406787.1:c.5_28dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406788.1:c.5_28dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406789.1:c.5_28dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406790.1:c.5_28dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406791.1:c.5_28dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406792.1:c.5_28dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406793.1:c.5_28dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406794.1:c.5_28dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_020629.2:c.5_28dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_020630.7:c.5_28dup - inframe_indel - [Sequence Ontology: SO:0001820]
NM_020975.6:c.5_28dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_020975.6:c.5_28dup - initiator_codon_variant - [Sequence Ontology: SO:0001582]

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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serine/threonine-protein phosphatase PP1-gamma catalytic subunit isoform 1 [Mus ...
serine/threonine-protein phosphatase PP1-gamma catalytic subunit isoform 1 [Mus musculus]
gi|31980772|ref|NP_038664.2|

Protein
Homo sapiens fibronectin type III domain containing 3A, mRNA (cDNA clone IMAGE:3...
Homo sapiens fibronectin type III domain containing 3A, mRNA (cDNA clone IMAGE:30320661)
gi|78394944|gb|BC107793.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002645452	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jun 5, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002645452

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jun 5, 2024)

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, SCV002645452.4

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

Description

The c.5_28dup24 variant (also known as p.A2_A9dup), located in coding exon 1 of the RET gene, results from an in-frame duplication of 24 nucleotides at nucleotide positions 5 to 28. This results in the duplication of 8 extra residues (AKATSGAA) between codons 2 and 9. This amino acid region is not well conserved in available vertebrate species. 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

ClinVar

Relating variation to medicine