NM_020975.6(RET):c.44TGC[6] (p.Leu19_Pro20insLeu) AND Multiple endocrine neoplasia, type 2

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 22, 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:: RCV000803187.7

Allele description [Variation Report for NM_020975.6(RET):c.44TGC[6] (p.Leu19_Pro20insLeu)]

NM_020975.6(RET):c.44TGC[6] (p.Leu19_Pro20insLeu)

Gene:

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

Variant type:

Microsatellite

Cytogenetic location:

10q11.21

Genomic location:

Preferred name:

NM_020975.6(RET):c.44TGC[6] (p.Leu19_Pro20insLeu)

HGVS:

NC_000010.11:g.43077302TGC[6]
NG_007489.1:g.5234TGC[6]
NG_045003.1:g.4489TGC[6]
NM_000323.2:c.44_46TGC[6]
NM_001406743.1:c.44_46TGC[6]
NM_001406744.1:c.44_46TGC[6]
NM_001406759.1:c.44_46TGC[6]
NM_001406760.1:c.44_46TGC[6]
NM_001406761.1:c.44_46TGC[6]
NM_001406762.1:c.44_46TGC[6]
NM_001406763.1:c.44_46TGC[6]
NM_001406764.1:c.44_46TGC[6]
NM_001406765.1:c.44_46TGC[6]
NM_001406766.1:c.44_46TGC[6]
NM_001406767.1:c.44_46TGC[6]
NM_001406768.1:c.44_46TGC[6]
NM_001406769.1:c.44_46TGC[6]
NM_001406770.1:c.44_46TGC[6]
NM_001406771.1:c.44_46TGC[6]
NM_001406772.1:c.44_46TGC[6]
NM_001406773.1:c.44_46TGC[6]
NM_001406774.1:c.44_46TGC[6]
NM_001406775.1:c.44_46TGC[6]
NM_001406776.1:c.44_46TGC[6]
NM_001406777.1:c.44_46TGC[6]
NM_001406778.1:c.44_46TGC[6]
NM_001406779.1:c.44_46TGC[6]
NM_001406780.1:c.44_46TGC[6]
NM_001406781.1:c.44_46TGC[6]
NM_001406782.1:c.44_46TGC[6]
NM_001406783.1:c.44_46TGC[6]
NM_001406784.1:c.44_46TGC[6]
NM_001406785.1:c.44_46TGC[6]
NM_001406786.1:c.44_46TGC[6]
NM_001406787.1:c.44_46TGC[6]
NM_001406788.1:c.44_46TGC[6]
NM_001406789.1:c.44_46TGC[6]
NM_001406790.1:c.44_46TGC[6]
NM_001406791.1:c.44_46TGC[6]
NM_001406792.1:c.44_46TGC[6]
NM_001406793.1:c.44_46TGC[6]
NM_001406794.1:c.44_46TGC[6]
NM_020629.2:c.44_46TGC[6]
NM_020630.7:c.44_46TGC[6]
NM_020975.6:c.44TGC[6]MANE SELECT
NP_000314.1:p.Leu19_Pro20insLeu
NP_001393672.1:p.Leu19_Pro20insLeu
NP_001393673.1:p.Leu19_Pro20insLeu
NP_001393688.1:p.Leu19_Pro20insLeu
NP_001393689.1:p.Leu19_Pro20insLeu
NP_001393690.1:p.Leu19_Pro20insLeu
NP_001393691.1:p.Leu19_Pro20insLeu
NP_001393692.1:p.Leu19_Pro20insLeu
NP_001393693.1:p.Leu19_Pro20insLeu
NP_001393694.1:p.Leu19_Pro20insLeu
NP_001393695.1:p.Leu19_Pro20insLeu
NP_001393696.1:p.Leu19_Pro20insLeu
NP_001393697.1:p.Leu19_Pro20insLeu
NP_001393698.1:p.Leu19_Pro20insLeu
NP_001393699.1:p.Leu19_Pro20insLeu
NP_001393700.1:p.Leu19_Pro20insLeu
NP_001393701.1:p.Leu19_Pro20insLeu
NP_001393702.1:p.Leu19_Pro20insLeu
NP_001393703.1:p.Leu19_Pro20insLeu
NP_001393704.1:p.Leu19_Pro20insLeu
NP_001393705.1:p.Leu19_Pro20insLeu
NP_001393706.1:p.Leu19_Pro20insLeu
NP_001393707.1:p.Leu19_Pro20insLeu
NP_001393708.1:p.Leu19_Pro20insLeu
NP_001393709.1:p.Leu19_Pro20insLeu
NP_001393710.1:p.Leu19_Pro20insLeu
NP_001393711.1:p.Leu19_Pro20insLeu
NP_001393712.1:p.Leu19_Pro20insLeu
NP_001393713.1:p.Leu19_Pro20insLeu
NP_001393714.1:p.Leu19_Pro20insLeu
NP_001393715.1:p.Leu19_Pro20insLeu
NP_001393716.1:p.Leu19_Pro20insLeu
NP_001393717.1:p.Leu19_Pro20insLeu
NP_001393718.1:p.Leu19_Pro20insLeu
NP_001393719.1:p.Leu19_Pro20insLeu
NP_001393720.1:p.Leu19_Pro20insLeu
NP_001393721.1:p.Leu19_Pro20insLeu
NP_001393722.1:p.Leu19_Pro20insLeu
NP_001393723.1:p.Leu19_Pro20insLeu
NP_065680.1:p.Leu19_Pro20insLeu
NP_065681.1:p.Leu19_Pro20insLeu
NP_065681.1:p.Leu19_Pro20insLeu
NP_065681.1:p.Leu19_Pro20insLeu
NP_066124.1:p.Leu19_Pro20insLeu
NP_066124.1:p.Leu19_Pro20insLeu
LRG_518t1:c.44_46TGC[6]
LRG_518t2:c.44_46TGC[6]
LRG_518:g.5234TGC[6]
LRG_518p1:p.Leu19_Pro20insLeu
LRG_518p2:p.Leu19_Pro20insLeu
NC_000010.10:g.43572749_43572750insTGC
NC_000010.10:g.43572750TGC[6]
NM_020630.4:c.44_46TGC[6]
NM_020630.6:c.44TGC[6]
NM_020975.4:c.44_46TGC[6]
NM_020975.4:c.56_58dupTGC

Links:

dbSNP: rs768132465

NCBI 1000 Genomes Browser:

rs768132465

Molecular consequence:

NM_000323.2:c.44_46TGC[6] - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406743.1:c.44_46TGC[6] - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406744.1:c.44_46TGC[6] - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406759.1:c.44_46TGC[6] - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406760.1:c.44_46TGC[6] - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406761.1:c.44_46TGC[6] - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406762.1:c.44_46TGC[6] - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406763.1:c.44_46TGC[6] - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406764.1:c.44_46TGC[6] - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406765.1:c.44_46TGC[6] - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406766.1:c.44_46TGC[6] - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406767.1:c.44_46TGC[6] - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406768.1:c.44_46TGC[6] - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406769.1:c.44_46TGC[6] - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406770.1:c.44_46TGC[6] - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406771.1:c.44_46TGC[6] - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406772.1:c.44_46TGC[6] - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406773.1:c.44_46TGC[6] - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406774.1:c.44_46TGC[6] - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406775.1:c.44_46TGC[6] - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406776.1:c.44_46TGC[6] - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406777.1:c.44_46TGC[6] - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406778.1:c.44_46TGC[6] - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406779.1:c.44_46TGC[6] - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406780.1:c.44_46TGC[6] - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406781.1:c.44_46TGC[6] - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406782.1:c.44_46TGC[6] - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406783.1:c.44_46TGC[6] - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406784.1:c.44_46TGC[6] - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406785.1:c.44_46TGC[6] - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406786.1:c.44_46TGC[6] - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406787.1:c.44_46TGC[6] - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406788.1:c.44_46TGC[6] - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406789.1:c.44_46TGC[6] - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406790.1:c.44_46TGC[6] - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406791.1:c.44_46TGC[6] - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406792.1:c.44_46TGC[6] - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406793.1:c.44_46TGC[6] - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001406794.1:c.44_46TGC[6] - inframe_indel - [Sequence Ontology: SO:0001820]
NM_020629.2:c.44_46TGC[6] - inframe_indel - [Sequence Ontology: SO:0001820]
NM_020630.7:c.44_46TGC[6] - inframe_indel - [Sequence Ontology: SO:0001820]
NM_020975.6:c.44TGC[6] - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

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

Recent activity

Clear Turn Off Turn On

Homo sapiens chromosome 6 genomic contig, GRCh38 reference assembly alternate lo...
Homo sapiens chromosome 6 genomic contig, GRCh38 reference assembly alternate locus group ALT_REF_LOCI_7
gi|568335994|gnl|ASM:GCA_000001375. HR6_MHC_SSTO_CTG1|gb|GL000256.2|

Nucleotide
D1R89_s5gp1 [Green River chinook virus]
D1R89_s5gp1 [Green River chinook virus]
Gene ID:37618786

Gene
Profile neighbors for GEO Profiles (Select 131376393) (199)
GEO Profiles
Profile neighbors for GEO Profiles (Select 131360559) (199)
GEO Profiles
HLA-DMA major histocompatibility complex, class II, DM alpha [Homo sapiens]
HLA-DMA major histocompatibility complex, class II, DM alpha [Homo sapiens]
Gene ID:3108

Gene

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
SCV000943049	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jan 22, 2024)	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

SCV000943049

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jan 22, 2024)

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 Labcorp Genetics (formerly Invitae), Labcorp, SCV000943049.4

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

Description

This variant, c.56_58dup, results in the insertion of 1 amino acid(s) of the RET protein (p.Leu19dup), but otherwise preserves the integrity of the reading frame. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with RET-related conditions. ClinVar contains an entry for this variant (Variation ID: 648453). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

#	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