NM_020975.6(RET):c.278G>A (p.Gly93Asp) AND Multiple endocrine neoplasia, type 2

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 28, 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:: RCV003047985.3

Allele description [Variation Report for NM_020975.6(RET):c.278G>A (p.Gly93Asp)]

NM_020975.6(RET):c.278G>A (p.Gly93Asp)

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.278G>A (p.Gly93Asp)

HGVS:

NC_000010.11:g.43100663G>A
NG_007489.1:g.28595G>A
NM_000323.2:c.278G>A
NM_001406743.1:c.278G>A
NM_001406744.1:c.278G>A
NM_001406759.1:c.278G>A
NM_001406760.1:c.278G>A
NM_001406761.1:c.278G>A
NM_001406762.1:c.278G>A
NM_001406763.1:c.278G>A
NM_001406764.1:c.278G>A
NM_001406765.1:c.278G>A
NM_001406766.1:c.278G>A
NM_001406767.1:c.278G>A
NM_001406768.1:c.278G>A
NM_001406769.1:c.278G>A
NM_001406770.1:c.278G>A
NM_001406771.1:c.278G>A
NM_001406772.1:c.278G>A
NM_001406773.1:c.278G>A
NM_001406774.1:c.278G>A
NM_001406775.1:c.278G>A
NM_001406776.1:c.278G>A
NM_001406777.1:c.278G>A
NM_001406778.1:c.278G>A
NM_001406779.1:c.278G>A
NM_001406780.1:c.278G>A
NM_001406781.1:c.278G>A
NM_001406782.1:c.278G>A
NM_001406783.1:c.278G>A
NM_001406785.1:c.278G>A
NM_001406786.1:c.278G>A
NM_001406787.1:c.278G>A
NM_001406788.1:c.278G>A
NM_001406789.1:c.278G>A
NM_001406790.1:c.278G>A
NM_001406791.1:c.278G>A
NM_020629.2:c.278G>A
NM_020630.7:c.278G>A
NM_020975.6:c.278G>AMANE SELECT
NP_000314.1:p.Gly93Asp
NP_001393672.1:p.Gly93Asp
NP_001393673.1:p.Gly93Asp
NP_001393688.1:p.Gly93Asp
NP_001393689.1:p.Gly93Asp
NP_001393690.1:p.Gly93Asp
NP_001393691.1:p.Gly93Asp
NP_001393692.1:p.Gly93Asp
NP_001393693.1:p.Gly93Asp
NP_001393694.1:p.Gly93Asp
NP_001393695.1:p.Gly93Asp
NP_001393696.1:p.Gly93Asp
NP_001393697.1:p.Gly93Asp
NP_001393698.1:p.Gly93Asp
NP_001393699.1:p.Gly93Asp
NP_001393700.1:p.Gly93Asp
NP_001393701.1:p.Gly93Asp
NP_001393702.1:p.Gly93Asp
NP_001393703.1:p.Gly93Asp
NP_001393704.1:p.Gly93Asp
NP_001393705.1:p.Gly93Asp
NP_001393706.1:p.Gly93Asp
NP_001393707.1:p.Gly93Asp
NP_001393708.1:p.Gly93Asp
NP_001393709.1:p.Gly93Asp
NP_001393710.1:p.Gly93Asp
NP_001393711.1:p.Gly93Asp
NP_001393712.1:p.Gly93Asp
NP_001393714.1:p.Gly93Asp
NP_001393715.1:p.Gly93Asp
NP_001393716.1:p.Gly93Asp
NP_001393717.1:p.Gly93Asp
NP_001393718.1:p.Gly93Asp
NP_001393719.1:p.Gly93Asp
NP_001393720.1:p.Gly93Asp
NP_065680.1:p.Gly93Asp
NP_065681.1:p.Gly93Asp
NP_065681.1:p.Gly93Asp
NP_065681.1:p.Gly93Asp
NP_066124.1:p.Gly93Asp
NP_066124.1:p.Gly93Asp
LRG_518t1:c.278G>A
LRG_518t2:c.278G>A
LRG_518:g.28595G>A
LRG_518p1:p.Gly93Asp
LRG_518p2:p.Gly93Asp
NC_000010.10:g.43596111G>A
NM_020630.4:c.278G>A
NM_020630.6:c.278G>A
NM_020975.4:c.278G>A

Protein change:

G93D

Molecular consequence:

NM_000323.2:c.278G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406743.1:c.278G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406744.1:c.278G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406759.1:c.278G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406760.1:c.278G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406761.1:c.278G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406762.1:c.278G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406763.1:c.278G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406764.1:c.278G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406765.1:c.278G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406766.1:c.278G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406767.1:c.278G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406768.1:c.278G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406769.1:c.278G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406770.1:c.278G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406771.1:c.278G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406772.1:c.278G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406773.1:c.278G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406774.1:c.278G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406775.1:c.278G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406776.1:c.278G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406777.1:c.278G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406778.1:c.278G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406779.1:c.278G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406780.1:c.278G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406781.1:c.278G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406782.1:c.278G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406783.1:c.278G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406785.1:c.278G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406786.1:c.278G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406787.1:c.278G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406788.1:c.278G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406789.1:c.278G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406790.1:c.278G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406791.1:c.278G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_020629.2:c.278G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_020630.7:c.278G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_020975.6:c.278G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Multiple endocrine neoplasia, type 2 (MEN2)
Identifiers:: MONDO: MONDO:0019003; MedGen: C4048306

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mitotic deacetylase-associated SANT domain protein isoform X1 [Homo sapiens]
mitotic deacetylase-associated SANT domain protein isoform X1 [Homo sapiens]
gi|530404915|ref|XP_005268263.1|

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003352846	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Apr 28, 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

SCV003352846

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Apr 28, 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

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003352846.2

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

Description

This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with RET-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 93 of the RET protein (p.Gly93Asp).

#	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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