NM_020975.6(RET):c.186G>A (p.Glu62=) AND multiple conditions

Germline classification:: Likely benign (1 submission)
Last evaluated:: Mar 23, 2022
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:: RCV002495560.8

Allele description [Variation Report for NM_020975.6(RET):c.186G>A (p.Glu62=)]

NM_020975.6(RET):c.186G>A (p.Glu62=)

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.186G>A (p.Glu62=)

HGVS:

NC_000010.11:g.43100571G>A
NG_007489.1:g.28503G>A
NM_000323.2:c.186G>A
NM_001406743.1:c.186G>A
NM_001406744.1:c.186G>A
NM_001406759.1:c.186G>A
NM_001406760.1:c.186G>A
NM_001406761.1:c.186G>A
NM_001406762.1:c.186G>A
NM_001406763.1:c.186G>A
NM_001406764.1:c.186G>A
NM_001406765.1:c.186G>A
NM_001406766.1:c.186G>A
NM_001406767.1:c.186G>A
NM_001406768.1:c.186G>A
NM_001406769.1:c.186G>A
NM_001406770.1:c.186G>A
NM_001406771.1:c.186G>A
NM_001406772.1:c.186G>A
NM_001406773.1:c.186G>A
NM_001406774.1:c.186G>A
NM_001406775.1:c.186G>A
NM_001406776.1:c.186G>A
NM_001406777.1:c.186G>A
NM_001406778.1:c.186G>A
NM_001406779.1:c.186G>A
NM_001406780.1:c.186G>A
NM_001406781.1:c.186G>A
NM_001406782.1:c.186G>A
NM_001406783.1:c.186G>A
NM_001406784.1:c.74-8460G>A
NM_001406785.1:c.186G>A
NM_001406786.1:c.186G>A
NM_001406787.1:c.186G>A
NM_001406788.1:c.186G>A
NM_001406789.1:c.186G>A
NM_001406790.1:c.186G>A
NM_001406791.1:c.186G>A
NM_001406792.1:c.74-11528G>A
NM_001406793.1:c.74-11528G>A
NM_001406794.1:c.74-11528G>A
NM_020629.2:c.186G>A
NM_020630.7:c.186G>A
NM_020975.6:c.186G>AMANE SELECT
NP_000314.1:p.Glu62=
NP_001393672.1:p.Glu62=
NP_001393673.1:p.Glu62=
NP_001393688.1:p.Glu62=
NP_001393689.1:p.Glu62=
NP_001393690.1:p.Glu62=
NP_001393691.1:p.Glu62=
NP_001393692.1:p.Glu62=
NP_001393693.1:p.Glu62=
NP_001393694.1:p.Glu62=
NP_001393695.1:p.Glu62=
NP_001393696.1:p.Glu62=
NP_001393697.1:p.Glu62=
NP_001393698.1:p.Glu62=
NP_001393699.1:p.Glu62=
NP_001393700.1:p.Glu62=
NP_001393701.1:p.Glu62=
NP_001393702.1:p.Glu62=
NP_001393703.1:p.Glu62=
NP_001393704.1:p.Glu62=
NP_001393705.1:p.Glu62=
NP_001393706.1:p.Glu62=
NP_001393707.1:p.Glu62=
NP_001393708.1:p.Glu62=
NP_001393709.1:p.Glu62=
NP_001393710.1:p.Glu62=
NP_001393711.1:p.Glu62=
NP_001393712.1:p.Glu62=
NP_001393714.1:p.Glu62=
NP_001393715.1:p.Glu62=
NP_001393716.1:p.Glu62=
NP_001393717.1:p.Glu62=
NP_001393718.1:p.Glu62=
NP_001393719.1:p.Glu62=
NP_001393720.1:p.Glu62=
NP_065680.1:p.Glu62=
NP_065681.1:p.Glu62=
NP_065681.1:p.Glu62=
NP_066124.1:p.Glu62=
NP_066124.1:p.Glu62=
LRG_518t1:c.186G>A
LRG_518t2:c.186G>A
LRG_518:g.28503G>A
LRG_518p1:p.Glu62=
LRG_518p2:p.Glu62=
NC_000010.10:g.43596019G>A
NM_020630.4:c.186G>A
NM_020630.5:c.186G>A
NM_020975.4:c.186G>A

Links:

dbSNP: rs1588862529

NCBI 1000 Genomes Browser:

rs1588862529

Molecular consequence:

NM_001406784.1:c.74-8460G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001406792.1:c.74-11528G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001406793.1:c.74-11528G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001406794.1:c.74-11528G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_000323.2:c.186G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001406743.1:c.186G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001406744.1:c.186G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001406759.1:c.186G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001406760.1:c.186G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001406761.1:c.186G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001406762.1:c.186G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001406763.1:c.186G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001406764.1:c.186G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001406765.1:c.186G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001406766.1:c.186G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001406767.1:c.186G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001406768.1:c.186G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001406769.1:c.186G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001406770.1:c.186G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001406771.1:c.186G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001406772.1:c.186G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001406773.1:c.186G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001406774.1:c.186G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001406775.1:c.186G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001406776.1:c.186G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001406777.1:c.186G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001406778.1:c.186G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001406779.1:c.186G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001406780.1:c.186G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001406781.1:c.186G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001406782.1:c.186G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001406783.1:c.186G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001406785.1:c.186G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001406786.1:c.186G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001406787.1:c.186G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001406788.1:c.186G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001406789.1:c.186G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001406790.1:c.186G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001406791.1:c.186G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_020629.2:c.186G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_020630.7:c.186G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_020975.6:c.186G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:: Hirschsprung disease, susceptibility to, 1
Synonyms:: Hirschsprung disease 1; HSCR 1; RET-Related Hirschsprung Disease
Identifiers:: MONDO: MONDO:0007723; MedGen: C3888239; Orphanet: 388; OMIM: 142623

Name:: Multiple endocrine neoplasia type 2B
Synonyms:: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; MEN IIB; NEUROMATA, MUCOSAL, WITH ENDOCRINE TUMORS; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0008082; MeSH: D018814; MedGen: C0025269; Orphanet: 653; OMIM: 162300

Name:: Pheochromocytoma
Synonyms:: Chromaffinoma; Chromaffin paraganglioma; Chromaffin tumor; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0008233; MedGen: C0031511; Orphanet: 29072; OMIM: 171300; Human Phenotype Ontology: HP:0002666

Name:: Familial medullary thyroid carcinoma (MTC)
Synonyms:: Thyroid cancer, familial medullary; MTC, familial
Identifiers:: MONDO: MONDO:0007958; MedGen: C1833921; Orphanet: 653; OMIM: 155240

Name:: Multiple endocrine neoplasia type 2A
Synonyms:: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA; Sipple syndrome; MEN 2A; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0008234; MeSH: D018813; MedGen: C0025268; Orphanet: 653; OMIM: 171400

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CYP405A2, partial [Zygaena transalpina]
CYP405A2, partial [Zygaena transalpina]
gi|1420818154|gb|AXB26339.1|

Protein
LOC124252626 [Homo sapiens]
LOC124252626 [Homo sapiens]
Gene ID:124252626

Gene
LOC129929032 [Homo sapiens]
LOC129929032 [Homo sapiens]
Gene ID:129929032

Gene
LOC126860599 [Homo sapiens]
LOC126860599 [Homo sapiens]
Gene ID:126860599

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002796512	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Mar 23, 2022)	unknown	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

SCV002796512

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign
(Mar 23, 2022)

unknown

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	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

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 Fulgent Genetics, Fulgent Genetics, SCV002796512.1

#	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 26, 2024

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