NM_020975.6(RET):c.2416T>C (p.Tyr806His) AND Multiple endocrine neoplasia, type 2

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

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 3, 2021
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:: RCV001327277.6

Allele description

NM_020975.6(RET):c.2416T>C (p.Tyr806His)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

10q11.21

Genomic location:

Preferred name:

NM_020975.6(RET):c.2416T>C (p.Tyr806His)

HGVS:

NC_000010.11:g.43119554T>C
NG_007489.1:g.47486T>C
NM_000323.2:c.2416T>C
NM_001355216.2:c.1654T>C
NM_001406743.1:c.2416T>C
NM_001406744.1:c.2416T>C
NM_001406759.1:c.2416T>C
NM_001406760.1:c.2416T>C
NM_001406761.1:c.2287T>C
NM_001406762.1:c.2287T>C
NM_001406763.1:c.2281T>C
NM_001406764.1:c.2287T>C
NM_001406765.1:c.2281T>C
NM_001406766.1:c.2128T>C
NM_001406767.1:c.2128T>C
NM_001406768.1:c.2152T>C
NM_001406769.1:c.2020T>C
NM_001406770.1:c.2128T>C
NM_001406771.1:c.1978T>C
NM_001406772.1:c.2020T>C
NM_001406773.1:c.1978T>C
NM_001406774.1:c.1891T>C
NM_001406775.1:c.1690T>C
NM_001406776.1:c.1690T>C
NM_001406777.1:c.1690T>C
NM_001406778.1:c.1690T>C
NM_001406779.1:c.1519T>C
NM_001406780.1:c.1519T>C
NM_001406781.1:c.1519T>C
NM_001406782.1:c.1519T>C
NM_001406783.1:c.1390T>C
NM_001406784.1:c.1426T>C
NM_001406785.1:c.1399T>C
NM_001406786.1:c.1390T>C
NM_001406787.1:c.1384T>C
NM_001406788.1:c.1231T>C
NM_001406789.1:c.1231T>C
NM_001406790.1:c.1231T>C
NM_001406791.1:c.1111T>C
NM_001406792.1:c.967T>C
NM_001406793.1:c.967T>C
NM_001406794.1:c.967T>C
NM_020629.2:c.2416T>C
NM_020630.7:c.2416T>C
NM_020975.6:c.2416T>CMANE SELECT
NP_000314.1:p.Tyr806His
NP_001342145.1:p.Tyr552His
NP_001342145.1:p.Tyr552His
NP_001393672.1:p.Tyr806His
NP_001393673.1:p.Tyr806His
NP_001393688.1:p.Tyr806His
NP_001393689.1:p.Tyr806His
NP_001393690.1:p.Tyr763His
NP_001393691.1:p.Tyr763His
NP_001393692.1:p.Tyr761His
NP_001393693.1:p.Tyr763His
NP_001393694.1:p.Tyr761His
NP_001393695.1:p.Tyr710His
NP_001393696.1:p.Tyr710His
NP_001393697.1:p.Tyr718His
NP_001393698.1:p.Tyr674His
NP_001393699.1:p.Tyr710His
NP_001393700.1:p.Tyr660His
NP_001393701.1:p.Tyr674His
NP_001393702.1:p.Tyr660His
NP_001393703.1:p.Tyr631His
NP_001393704.1:p.Tyr564His
NP_001393705.1:p.Tyr564His
NP_001393706.1:p.Tyr564His
NP_001393707.1:p.Tyr564His
NP_001393708.1:p.Tyr507His
NP_001393709.1:p.Tyr507His
NP_001393710.1:p.Tyr507His
NP_001393711.1:p.Tyr507His
NP_001393712.1:p.Tyr464His
NP_001393713.1:p.Tyr476His
NP_001393714.1:p.Tyr467His
NP_001393715.1:p.Tyr464His
NP_001393716.1:p.Tyr462His
NP_001393717.1:p.Tyr411His
NP_001393718.1:p.Tyr411His
NP_001393719.1:p.Tyr411His
NP_001393720.1:p.Tyr371His
NP_001393721.1:p.Tyr323His
NP_001393722.1:p.Tyr323His
NP_001393723.1:p.Tyr323His
NP_065680.1:p.Tyr806His
NP_065681.1:p.Tyr806His
NP_065681.1:p.Tyr806His
NP_065681.1:p.Tyr806His
NP_066124.1:p.Tyr806His
NP_066124.1:p.Tyr806His
LRG_518t1:c.2416T>C
LRG_518t2:c.2416T>C
LRG_518:g.47486T>C
LRG_518p1:p.Tyr806His
LRG_518p2:p.Tyr806His
NC_000010.10:g.43615002T>C
NM_001355216.1:c.1654T>C
NM_020630.4:c.2416T>C
NM_020630.6:c.2416T>C
NM_020975.4:c.2416T>C

Protein change:

Y323H

Links:

dbSNP: rs1838154415

NCBI 1000 Genomes Browser:

rs1838154415

Molecular consequence:

NM_000323.2:c.2416T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001355216.2:c.1654T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406743.1:c.2416T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406744.1:c.2416T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406759.1:c.2416T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406760.1:c.2416T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406761.1:c.2287T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406762.1:c.2287T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406763.1:c.2281T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406764.1:c.2287T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406765.1:c.2281T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406766.1:c.2128T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406767.1:c.2128T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406768.1:c.2152T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406769.1:c.2020T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406770.1:c.2128T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406771.1:c.1978T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406772.1:c.2020T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406773.1:c.1978T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406774.1:c.1891T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406775.1:c.1690T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406776.1:c.1690T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406777.1:c.1690T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406778.1:c.1690T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406779.1:c.1519T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406780.1:c.1519T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406781.1:c.1519T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406782.1:c.1519T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406783.1:c.1390T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406784.1:c.1426T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406785.1:c.1399T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406786.1:c.1390T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406787.1:c.1384T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406788.1:c.1231T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406789.1:c.1231T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406790.1:c.1231T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406791.1:c.1111T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406792.1:c.967T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406793.1:c.967T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406794.1:c.967T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_020629.2:c.2416T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_020630.7:c.2416T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_020975.6:c.2416T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

Recent activity

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PREDICTED: Benincasa hispida pentatricopeptide repeat-containing protein At5g047...
PREDICTED: Benincasa hispida pentatricopeptide repeat-containing protein At5g04780, mitochondrial (LOC120075295), transcript variant X2, mRNA
gi|1955852806|ref|XM_039028532.1|

Nucleotide
Myb domain protein 55 [Populus tomentosa]
Myb domain protein 55 [Populus tomentosa]
gi|1476489714|gb|AXY97864.1|

Protein
RecName: Full=Myb-like DNA-binding protein BAS1
RecName: Full=Myb-like DNA-binding protein BAS1
gi|114834|sp|P22035.1|BAS1_YEAST

Protein
Stevia centinelae (43)
Books
Tssr128383 AND (alive[prop]) (0)
Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001518344	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Sep 3, 2021)	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

SCV001518344

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Sep 3, 2021)

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, SCV001518344.5

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

Description

This sequence change replaces tyrosine with histidine at codon 806 of the RET protein (p.Tyr806His). The tyrosine residue is highly conserved and there is a moderate physicochemical difference between tyrosine and histidine. This variant is not present in population databases (ExAC no frequency). 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with RET-related conditions.

#	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

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