NM_020975.6(RET):c.200G>A (p.Arg67His) AND not provided

Germline classification:: Likely benign (2 submissions)
Last evaluated:: Apr 12, 2017
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:: RCV000034768.21

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)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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straw, isoform A [Drosophila melanogaster]
straw, isoform A [Drosophila melanogaster]
gi|24585842|ref|NP_724412.1|

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000043468	Biesecker Lab/Clinical Genomics Section, National Institutes of Health - ClinSeq	no assertion criteria provided	variant of unknown significance (Jul 13, 2012)	germline	research	PubMed (1) [See all records that cite this PMID]
SCV000610899	Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Apr 12, 2017)	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

SCV000043468

Biesecker Lab/Clinical Genomics Section, National Institutes of Health - ClinSeq

no assertion criteria provided

variant of unknown significance
(Jul 13, 2012)

germline

research

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

SCV000610899

Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign
(Apr 12, 2017)

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	no	2	not provided	not provided	553	not provided	research
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.

Johnston JJ, Rubinstein WS, Facio FM, Ng D, Singh LN, Teer JK, Mullikin JC, Biesecker LG.

Am J Hum Genet. 2012 Jul 13;91(1):97-108. doi: 10.1016/j.ajhg.2012.05.021. Epub 2012 Jun 14.

PubMed [citation]

PMID:: 22703879
PMCID:: PMC3397257

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 Biesecker Lab/Clinical Genomics Section, National Institutes of Health - ClinSeq, SCV000043468.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	research	PubMed (1)

Description

The study set was not selected for affection status in relation to any cancer. Pathogenicity categories were based on literature curation. See PubMed ID:22703879 for details.

Description

Converted during submission to Uncertain significance.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	no	553	not provided	discovery		2	not provided	not provided	not provided

From Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics, SCV000610899.1

#	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	not provided	not provided	not provided	not provided		not provided	0.000554	not provided	not provided

Last Updated: Oct 26, 2024

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