NM_020975.6(RET):c.200G>A (p.Arg67His) AND Multiple endocrine neoplasia, type 2

Germline classification:: Benign (2 submissions)
Last evaluated:: Feb 1, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV001080638.17

Allele description [Variation Report for NM_020975.6(RET):c.200G>A (p.Arg67His)]

NM_020975.6(RET):c.200G>A (p.Arg67His)

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.200G>A (p.Arg67His)

HGVS:

NC_000010.11:g.43100585G>A
NG_007489.1:g.28517G>A
NM_000323.2:c.200G>A
NM_001406743.1:c.200G>A
NM_001406744.1:c.200G>A
NM_001406759.1:c.200G>A
NM_001406760.1:c.200G>A
NM_001406761.1:c.200G>A
NM_001406762.1:c.200G>A
NM_001406763.1:c.200G>A
NM_001406764.1:c.200G>A
NM_001406765.1:c.200G>A
NM_001406766.1:c.200G>A
NM_001406767.1:c.200G>A
NM_001406768.1:c.200G>A
NM_001406769.1:c.200G>A
NM_001406770.1:c.200G>A
NM_001406771.1:c.200G>A
NM_001406772.1:c.200G>A
NM_001406773.1:c.200G>A
NM_001406774.1:c.200G>A
NM_001406775.1:c.200G>A
NM_001406776.1:c.200G>A
NM_001406777.1:c.200G>A
NM_001406778.1:c.200G>A
NM_001406779.1:c.200G>A
NM_001406780.1:c.200G>A
NM_001406781.1:c.200G>A
NM_001406782.1:c.200G>A
NM_001406783.1:c.200G>A
NM_001406785.1:c.200G>A
NM_001406786.1:c.200G>A
NM_001406787.1:c.200G>A
NM_001406788.1:c.200G>A
NM_001406789.1:c.200G>A
NM_001406790.1:c.200G>A
NM_001406791.1:c.200G>A
NM_020629.2:c.200G>A
NM_020630.7:c.200G>A
NM_020975.6:c.200G>AMANE SELECT
NP_000314.1:p.Arg67His
NP_001393672.1:p.Arg67His
NP_001393673.1:p.Arg67His
NP_001393688.1:p.Arg67His
NP_001393689.1:p.Arg67His
NP_001393690.1:p.Arg67His
NP_001393691.1:p.Arg67His
NP_001393692.1:p.Arg67His
NP_001393693.1:p.Arg67His
NP_001393694.1:p.Arg67His
NP_001393695.1:p.Arg67His
NP_001393696.1:p.Arg67His
NP_001393697.1:p.Arg67His
NP_001393698.1:p.Arg67His
NP_001393699.1:p.Arg67His
NP_001393700.1:p.Arg67His
NP_001393701.1:p.Arg67His
NP_001393702.1:p.Arg67His
NP_001393703.1:p.Arg67His
NP_001393704.1:p.Arg67His
NP_001393705.1:p.Arg67His
NP_001393706.1:p.Arg67His
NP_001393707.1:p.Arg67His
NP_001393708.1:p.Arg67His
NP_001393709.1:p.Arg67His
NP_001393710.1:p.Arg67His
NP_001393711.1:p.Arg67His
NP_001393712.1:p.Arg67His
NP_001393714.1:p.Arg67His
NP_001393715.1:p.Arg67His
NP_001393716.1:p.Arg67His
NP_001393717.1:p.Arg67His
NP_001393718.1:p.Arg67His
NP_001393719.1:p.Arg67His
NP_001393720.1:p.Arg67His
NP_065680.1:p.Arg67His
NP_065681.1:p.Arg67His
NP_065681.1:p.Arg67His
NP_065681.1:p.Arg67His
NP_066124.1:p.Arg67His
NP_066124.1:p.Arg67His
LRG_518t1:c.200G>A
LRG_518t2:c.200G>A
LRG_518:g.28517G>A
LRG_518p1:p.Arg67His
LRG_518p2:p.Arg67His
NC_000010.10:g.43596033G>A
NM_020630.4:c.200G>A
NM_020630.6:c.200G>A
NM_020975.4:c.200G>A
NM_020975.5:c.200G>A
P07949:p.Arg67His

Protein change:

R67H

Links:

UniProtKB: P07949#VAR_018153; dbSNP: rs192489011

NCBI 1000 Genomes Browser:

rs192489011

Molecular consequence:

NM_000323.2:c.200G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406743.1:c.200G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406744.1:c.200G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406759.1:c.200G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406760.1:c.200G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406761.1:c.200G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406762.1:c.200G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406763.1:c.200G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406764.1:c.200G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406765.1:c.200G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406766.1:c.200G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406767.1:c.200G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406768.1:c.200G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406769.1:c.200G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406770.1:c.200G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406771.1:c.200G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406772.1:c.200G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406773.1:c.200G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406774.1:c.200G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406775.1:c.200G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406776.1:c.200G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406777.1:c.200G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406778.1:c.200G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406779.1:c.200G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406780.1:c.200G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406781.1:c.200G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406782.1:c.200G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406783.1:c.200G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406785.1:c.200G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406786.1:c.200G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406787.1:c.200G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406788.1:c.200G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406789.1:c.200G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406790.1:c.200G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406791.1:c.200G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_020629.2:c.200G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_020630.7:c.200G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_020975.6:c.200G>A - 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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NP_000052 (0)
GEO DataSets
NP_000052 AND 1[s_discriminator] (0)
dbGaP
PREDICTED: Medicago truncatula cold-regulated protein 28 (LOC11443438), transcri...
PREDICTED: Medicago truncatula cold-regulated protein 28 (LOC11443438), transcript variant X2, mRNA
gi|1995130818|ref|XM_024781346.2|

Nucleotide
Yuzurua poiteaui voucher CWS/CEL 10-11-3 cytochrome oxidase subunit 1 (COI) gene...
Yuzurua poiteaui voucher CWS/CEL 10-11-3 cytochrome oxidase subunit 1 (COI) gene, partial cds; mitochondrial
gi|2191390946|gb|OK209894.1|

Nucleotide
qqTroExca7 alternate haplotype
qqTroExca7 alternate haplotype
Troglohyphantes excavatus genome assembly, qqTroExca7, alternate haplotype

BioProject

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000261427	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Benign (Feb 1, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004357215	Color Diagnostics, LLC DBA Color Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Sep 29, 2022)	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

SCV000261427

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Benign
(Feb 1, 2024)

germline

clinical testing

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

SCV004357215

Color Diagnostics, LLC DBA Color Health

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign
(Sep 29, 2022)

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

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000261427.11

#	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

From Color Diagnostics, LLC DBA Color Health, SCV004357215.1

#	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: Oct 26, 2024

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