NM_020975.6(RET):c.82G>A (p.Gly28Ser) AND not provided

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Feb 16, 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:: RCV003148868.3

Allele description [Variation Report for NM_020975.6(RET):c.82G>A (p.Gly28Ser)]

NM_020975.6(RET):c.82G>A (p.Gly28Ser)

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.82G>A (p.Gly28Ser)

Other names:

p.Gly28Ser

HGVS:

NC_000010.11:g.43100467G>A
NG_007489.1:g.28399G>A
NM_000323.2:c.82G>A
NM_001406743.1:c.82G>A
NM_001406744.1:c.82G>A
NM_001406759.1:c.82G>A
NM_001406760.1:c.82G>A
NM_001406761.1:c.82G>A
NM_001406762.1:c.82G>A
NM_001406763.1:c.82G>A
NM_001406764.1:c.82G>A
NM_001406765.1:c.82G>A
NM_001406766.1:c.82G>A
NM_001406767.1:c.82G>A
NM_001406768.1:c.82G>A
NM_001406769.1:c.82G>A
NM_001406770.1:c.82G>A
NM_001406771.1:c.82G>A
NM_001406772.1:c.82G>A
NM_001406773.1:c.82G>A
NM_001406774.1:c.82G>A
NM_001406775.1:c.82G>A
NM_001406776.1:c.82G>A
NM_001406777.1:c.82G>A
NM_001406778.1:c.82G>A
NM_001406779.1:c.82G>A
NM_001406780.1:c.82G>A
NM_001406781.1:c.82G>A
NM_001406782.1:c.82G>A
NM_001406783.1:c.82G>A
NM_001406785.1:c.82G>A
NM_001406786.1:c.82G>A
NM_001406787.1:c.82G>A
NM_001406788.1:c.82G>A
NM_001406789.1:c.82G>A
NM_001406790.1:c.82G>A
NM_001406791.1:c.82G>A
NM_020629.2:c.82G>A
NM_020630.7:c.82G>A
NM_020975.6:c.82G>AMANE SELECT
NP_000314.1:p.Gly28Ser
NP_001393672.1:p.Gly28Ser
NP_001393673.1:p.Gly28Ser
NP_001393688.1:p.Gly28Ser
NP_001393689.1:p.Gly28Ser
NP_001393690.1:p.Gly28Ser
NP_001393691.1:p.Gly28Ser
NP_001393692.1:p.Gly28Ser
NP_001393693.1:p.Gly28Ser
NP_001393694.1:p.Gly28Ser
NP_001393695.1:p.Gly28Ser
NP_001393696.1:p.Gly28Ser
NP_001393697.1:p.Gly28Ser
NP_001393698.1:p.Gly28Ser
NP_001393699.1:p.Gly28Ser
NP_001393700.1:p.Gly28Ser
NP_001393701.1:p.Gly28Ser
NP_001393702.1:p.Gly28Ser
NP_001393703.1:p.Gly28Ser
NP_001393704.1:p.Gly28Ser
NP_001393705.1:p.Gly28Ser
NP_001393706.1:p.Gly28Ser
NP_001393707.1:p.Gly28Ser
NP_001393708.1:p.Gly28Ser
NP_001393709.1:p.Gly28Ser
NP_001393710.1:p.Gly28Ser
NP_001393711.1:p.Gly28Ser
NP_001393712.1:p.Gly28Ser
NP_001393714.1:p.Gly28Ser
NP_001393715.1:p.Gly28Ser
NP_001393716.1:p.Gly28Ser
NP_001393717.1:p.Gly28Ser
NP_001393718.1:p.Gly28Ser
NP_001393719.1:p.Gly28Ser
NP_001393720.1:p.Gly28Ser
NP_065680.1:p.Gly28Ser
NP_065681.1:p.Gly28Ser
NP_065681.1:p.Gly28Ser
NP_065681.1:p.Gly28Ser
NP_066124.1:p.Gly28Ser
NP_066124.1:p.Gly28Ser
LRG_518t1:c.82G>A
LRG_518t2:c.82G>A
LRG_518:g.28399G>A
LRG_518p1:p.Gly28Ser
LRG_518p2:p.Gly28Ser
NC_000010.10:g.43595915G>A
NM_020630.4:c.82G>A
NM_020630.6:c.82G>A
NM_020975.4:c.82G>A

Protein change:

G28S

Links:

dbSNP: rs779905135

NCBI 1000 Genomes Browser:

rs779905135

Molecular consequence:

NM_000323.2:c.82G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406743.1:c.82G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406744.1:c.82G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406759.1:c.82G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406760.1:c.82G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406761.1:c.82G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406762.1:c.82G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406763.1:c.82G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406764.1:c.82G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406765.1:c.82G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406766.1:c.82G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406767.1:c.82G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406768.1:c.82G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406769.1:c.82G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406770.1:c.82G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406771.1:c.82G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406772.1:c.82G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406773.1:c.82G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406774.1:c.82G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406775.1:c.82G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406776.1:c.82G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406777.1:c.82G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406778.1:c.82G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406779.1:c.82G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406780.1:c.82G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406781.1:c.82G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406782.1:c.82G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406783.1:c.82G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406785.1:c.82G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406786.1:c.82G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406787.1:c.82G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406788.1:c.82G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406789.1:c.82G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406790.1:c.82G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406791.1:c.82G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_020629.2:c.82G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_020630.7:c.82G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_020975.6:c.82G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003836944	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Feb 16, 2024)	germline	clinical testing	Citation Link,
SCV004225222	Mayo Clinic Laboratories, Mayo Clinic	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Mar 9, 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

SCV003836944

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Feb 16, 2024)

germline

clinical testing

Citation Link,

SCV004225222

Mayo Clinic Laboratories, Mayo Clinic

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Mar 9, 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	1	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	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 GeneDx, SCV003836944.2

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

Description

Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 14633923)

#	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 Mayo Clinic Laboratories, Mayo Clinic, SCV004225222.1

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

Last Updated: Sep 29, 2024

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