NM_020975.6(RET):c.337+17_337+28dup AND Multiple endocrine neoplasia, type 2

This record was updated by the submitter. Please see the current version.

Germline classification:: Likely benign (1 submission)
Last evaluated:: Aug 6, 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:: RCV002182100.7

Allele description

NM_020975.6(RET):c.337+17_337+28dup

Gene:

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

Variant type:

Duplication

Cytogenetic location:

10q11.21

Genomic location:

Preferred name:

NM_020975.6(RET):c.337+17_337+28dup

HGVS:

NC_000010.11:g.43100739_43100750dup
NG_007489.1:g.28671_28682dup
NM_001406743.1:c.337+17_337+28dup
NM_001406744.1:c.337+17_337+28dup
NM_001406759.1:c.337+17_337+28dup
NM_001406760.1:c.337+17_337+28dup
NM_001406761.1:c.337+17_337+28dup
NM_001406762.1:c.337+17_337+28dup
NM_001406763.1:c.337+17_337+28dup
NM_001406764.1:c.337+17_337+28dup
NM_001406765.1:c.337+17_337+28dup
NM_001406766.1:c.337+17_337+28dup
NM_001406767.1:c.337+17_337+28dup
NM_001406768.1:c.337+17_337+28dup
NM_001406769.1:c.337+17_337+28dup
NM_001406770.1:c.337+17_337+28dup
NM_001406771.1:c.337+17_337+28dup
NM_001406772.1:c.337+17_337+28dup
NM_001406773.1:c.337+17_337+28dup
NM_001406774.1:c.337+17_337+28dup
NM_001406775.1:c.337+17_337+28dup
NM_001406776.1:c.337+17_337+28dup
NM_001406777.1:c.337+17_337+28dup
NM_001406778.1:c.337+17_337+28dup
NM_001406779.1:c.337+17_337+28dup
NM_001406780.1:c.337+17_337+28dup
NM_001406781.1:c.337+17_337+28dup
NM_001406782.1:c.337+17_337+28dup
NM_001406783.1:c.337+17_337+28dup
NM_001406784.1:c.74-8292_74-8281dup
NM_001406785.1:c.337+17_337+28dup
NM_001406786.1:c.337+17_337+28dup
NM_001406787.1:c.337+17_337+28dup
NM_001406788.1:c.337+17_337+28dup
NM_001406789.1:c.337+17_337+28dup
NM_001406790.1:c.337+17_337+28dup
NM_001406791.1:c.337+17_337+28dup
NM_001406792.1:c.74-11360_74-11349dup
NM_001406793.1:c.74-11360_74-11349dup
NM_001406794.1:c.74-11360_74-11349dup
NM_020630.7:c.337+17_337+28dup
NM_020975.6:c.337+17_337+28dupMANE SELECT
LRG_518:g.28671_28682dup
NC_000010.10:g.43596182_43596183insCCCCAACACCCA
NC_000010.10:g.43596187_43596198dup

Links:

dbSNP: rs1837623791

NCBI 1000 Genomes Browser:

rs1837623791

Molecular consequence:

NM_001406743.1:c.337+17_337+28dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001406744.1:c.337+17_337+28dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001406759.1:c.337+17_337+28dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001406760.1:c.337+17_337+28dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001406761.1:c.337+17_337+28dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001406762.1:c.337+17_337+28dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001406763.1:c.337+17_337+28dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001406764.1:c.337+17_337+28dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001406765.1:c.337+17_337+28dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001406766.1:c.337+17_337+28dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001406767.1:c.337+17_337+28dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001406768.1:c.337+17_337+28dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001406769.1:c.337+17_337+28dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001406770.1:c.337+17_337+28dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001406771.1:c.337+17_337+28dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001406772.1:c.337+17_337+28dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001406773.1:c.337+17_337+28dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001406774.1:c.337+17_337+28dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001406775.1:c.337+17_337+28dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001406776.1:c.337+17_337+28dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001406777.1:c.337+17_337+28dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001406778.1:c.337+17_337+28dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001406779.1:c.337+17_337+28dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001406780.1:c.337+17_337+28dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001406781.1:c.337+17_337+28dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001406782.1:c.337+17_337+28dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001406783.1:c.337+17_337+28dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001406784.1:c.74-8292_74-8281dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001406785.1:c.337+17_337+28dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001406786.1:c.337+17_337+28dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001406787.1:c.337+17_337+28dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001406788.1:c.337+17_337+28dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001406789.1:c.337+17_337+28dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001406790.1:c.337+17_337+28dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001406791.1:c.337+17_337+28dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001406792.1:c.74-11360_74-11349dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001406793.1:c.74-11360_74-11349dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001406794.1:c.74-11360_74-11349dup - intron variant - [Sequence Ontology: SO:0001627]
NM_020630.7:c.337+17_337+28dup - intron variant - [Sequence Ontology: SO:0001627]
NM_020975.6:c.337+17_337+28dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Multiple endocrine neoplasia, type 2 (MEN2)
Identifiers:: MONDO: MONDO:0019003; MedGen: C4048306

Recent activity

Clear Turn Off Turn On

Rattus norvegicus amine oxidase, copper containing 3 (Aoc3), mRNA
Rattus norvegicus amine oxidase, copper containing 3 (Aoc3), mRNA
gi|56711249|ref|NM_031582.1|

Nucleotide

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002333193	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (Aug 6, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002333193

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely benign
(Aug 6, 2023)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Invitae, SCV002333193.3

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

#	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: Jun 2, 2024

ClinVar

Relating variation to medicine