NM_020975.6(RET):c.182A>C (p.Glu61Ala) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Apr 5, 2022
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:: RCV000708753.5

Allele description [Variation Report for NM_020975.6(RET):c.182A>C (p.Glu61Ala)]

NM_020975.6(RET):c.182A>C (p.Glu61Ala)

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.182A>C (p.Glu61Ala)

HGVS:

NC_000010.11:g.43100567A>C
NG_007489.1:g.28499A>C
NM_000323.2:c.182A>C
NM_001406743.1:c.182A>C
NM_001406744.1:c.182A>C
NM_001406759.1:c.182A>C
NM_001406760.1:c.182A>C
NM_001406761.1:c.182A>C
NM_001406762.1:c.182A>C
NM_001406763.1:c.182A>C
NM_001406764.1:c.182A>C
NM_001406765.1:c.182A>C
NM_001406766.1:c.182A>C
NM_001406767.1:c.182A>C
NM_001406768.1:c.182A>C
NM_001406769.1:c.182A>C
NM_001406770.1:c.182A>C
NM_001406771.1:c.182A>C
NM_001406772.1:c.182A>C
NM_001406773.1:c.182A>C
NM_001406774.1:c.182A>C
NM_001406775.1:c.182A>C
NM_001406776.1:c.182A>C
NM_001406777.1:c.182A>C
NM_001406778.1:c.182A>C
NM_001406779.1:c.182A>C
NM_001406780.1:c.182A>C
NM_001406781.1:c.182A>C
NM_001406782.1:c.182A>C
NM_001406783.1:c.182A>C
NM_001406785.1:c.182A>C
NM_001406786.1:c.182A>C
NM_001406787.1:c.182A>C
NM_001406788.1:c.182A>C
NM_001406789.1:c.182A>C
NM_001406790.1:c.182A>C
NM_001406791.1:c.182A>C
NM_020629.2:c.182A>C
NM_020630.7:c.182A>C
NM_020975.6:c.182A>CMANE SELECT
NP_000314.1:p.Glu61Ala
NP_001393672.1:p.Glu61Ala
NP_001393673.1:p.Glu61Ala
NP_001393688.1:p.Glu61Ala
NP_001393689.1:p.Glu61Ala
NP_001393690.1:p.Glu61Ala
NP_001393691.1:p.Glu61Ala
NP_001393692.1:p.Glu61Ala
NP_001393693.1:p.Glu61Ala
NP_001393694.1:p.Glu61Ala
NP_001393695.1:p.Glu61Ala
NP_001393696.1:p.Glu61Ala
NP_001393697.1:p.Glu61Ala
NP_001393698.1:p.Glu61Ala
NP_001393699.1:p.Glu61Ala
NP_001393700.1:p.Glu61Ala
NP_001393701.1:p.Glu61Ala
NP_001393702.1:p.Glu61Ala
NP_001393703.1:p.Glu61Ala
NP_001393704.1:p.Glu61Ala
NP_001393705.1:p.Glu61Ala
NP_001393706.1:p.Glu61Ala
NP_001393707.1:p.Glu61Ala
NP_001393708.1:p.Glu61Ala
NP_001393709.1:p.Glu61Ala
NP_001393710.1:p.Glu61Ala
NP_001393711.1:p.Glu61Ala
NP_001393712.1:p.Glu61Ala
NP_001393714.1:p.Glu61Ala
NP_001393715.1:p.Glu61Ala
NP_001393716.1:p.Glu61Ala
NP_001393717.1:p.Glu61Ala
NP_001393718.1:p.Glu61Ala
NP_001393719.1:p.Glu61Ala
NP_001393720.1:p.Glu61Ala
NP_065680.1:p.Glu61Ala
NP_065681.1:p.Glu61Ala
NP_065681.1:p.Glu61Ala
NP_065681.1:p.Glu61Ala
NP_066124.1:p.Glu61Ala
NP_066124.1:p.Glu61Ala
LRG_518t1:c.182A>C
LRG_518t2:c.182A>C
LRG_518:g.28499A>C
LRG_518p1:p.Glu61Ala
LRG_518p2:p.Glu61Ala
NC_000010.10:g.43596015A>C
NM_020630.4:c.182A>C
NM_020630.6:c.182A>C
NM_020975.4:c.182A>C
NM_020975.5:c.182A>C

Protein change:

E61A

Links:

dbSNP: rs1564489398

NCBI 1000 Genomes Browser:

rs1564489398

Molecular consequence:

NM_000323.2:c.182A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406743.1:c.182A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406744.1:c.182A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406759.1:c.182A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406760.1:c.182A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406761.1:c.182A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406762.1:c.182A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406763.1:c.182A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406764.1:c.182A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406765.1:c.182A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406766.1:c.182A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406767.1:c.182A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406768.1:c.182A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406769.1:c.182A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406770.1:c.182A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406771.1:c.182A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406772.1:c.182A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406773.1:c.182A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406774.1:c.182A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406775.1:c.182A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406776.1:c.182A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406777.1:c.182A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406778.1:c.182A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406779.1:c.182A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406780.1:c.182A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406781.1:c.182A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406782.1:c.182A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406783.1:c.182A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406785.1:c.182A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406786.1:c.182A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406787.1:c.182A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406788.1:c.182A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406789.1:c.182A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406790.1:c.182A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001406791.1:c.182A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_020629.2:c.182A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_020630.7:c.182A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_020975.6:c.182A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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dad44e04.x1 Wellcome CRC pCS107 tropicalis St10-12 Xenopus tropicalis cDNA clone IMAGE:4462542 3' similar to TR:Q9WV45 Q9WV45 NUCLEOLAR RNA HELICASE II/GU, mRNA sequence
gi|14262641|gnl|dbEST|8649891|gb|BG 9.1|

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MAG: Betaproteobacteria bacterium HGW-Betaproteobacteria-22, whole genome shotgun sequencing project
gi|1308927425|gb|PHCJ00000000.1|PHC 0000

Nucleotide
Concise Conserved Domain Links for Protein (Select 1308927348) (1)
Conserved Domains

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000822191	GeneKor MSA	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Aug 1, 2018)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002714637	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Apr 5, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000822191

GeneKor MSA

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Aug 1, 2018)

germline

clinical testing

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

SCV002714637

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Apr 5, 2022)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	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 GeneKor MSA, SCV000822191.1

#	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	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Ambry Genetics, SCV002714637.2

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

Description

The p.E61A variant (also known as c.182A>C), located in coding exon 2 of the RET gene, results from an A to C substitution at nucleotide position 182. The glutamic acid at codon 61 is replaced by alanine, an amino acid with dissimilar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	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

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