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NM_020975.6(RET):c.262A>G (p.Ile88Val) AND Multiple endocrine neoplasia type 2A

Germline classification:
Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:
Jul 2, 2018
Review status:
criteria provided, conflicting classifications
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:
RCV000410050.7

Allele description [Variation Report for NM_020975.6(RET):c.262A>G (p.Ile88Val)]

NM_020975.6(RET):c.262A>G (p.Ile88Val)

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.262A>G (p.Ile88Val)
HGVS:
  • NC_000010.11:g.43100647A>G
  • NG_007489.1:g.28579A>G
  • NM_000323.2:c.262A>G
  • NM_001406743.1:c.262A>G
  • NM_001406744.1:c.262A>G
  • NM_001406759.1:c.262A>G
  • NM_001406760.1:c.262A>G
  • NM_001406761.1:c.262A>G
  • NM_001406762.1:c.262A>G
  • NM_001406763.1:c.262A>G
  • NM_001406764.1:c.262A>G
  • NM_001406765.1:c.262A>G
  • NM_001406766.1:c.262A>G
  • NM_001406767.1:c.262A>G
  • NM_001406768.1:c.262A>G
  • NM_001406769.1:c.262A>G
  • NM_001406770.1:c.262A>G
  • NM_001406771.1:c.262A>G
  • NM_001406772.1:c.262A>G
  • NM_001406773.1:c.262A>G
  • NM_001406774.1:c.262A>G
  • NM_001406775.1:c.262A>G
  • NM_001406776.1:c.262A>G
  • NM_001406777.1:c.262A>G
  • NM_001406778.1:c.262A>G
  • NM_001406779.1:c.262A>G
  • NM_001406780.1:c.262A>G
  • NM_001406781.1:c.262A>G
  • NM_001406782.1:c.262A>G
  • NM_001406783.1:c.262A>G
  • NM_001406785.1:c.262A>G
  • NM_001406786.1:c.262A>G
  • NM_001406787.1:c.262A>G
  • NM_001406788.1:c.262A>G
  • NM_001406789.1:c.262A>G
  • NM_001406790.1:c.262A>G
  • NM_001406791.1:c.262A>G
  • NM_020629.2:c.262A>G
  • NM_020630.7:c.262A>G
  • NM_020975.6:c.262A>GMANE SELECT
  • NP_000314.1:p.Ile88Val
  • NP_001393672.1:p.Ile88Val
  • NP_001393673.1:p.Ile88Val
  • NP_001393688.1:p.Ile88Val
  • NP_001393689.1:p.Ile88Val
  • NP_001393690.1:p.Ile88Val
  • NP_001393691.1:p.Ile88Val
  • NP_001393692.1:p.Ile88Val
  • NP_001393693.1:p.Ile88Val
  • NP_001393694.1:p.Ile88Val
  • NP_001393695.1:p.Ile88Val
  • NP_001393696.1:p.Ile88Val
  • NP_001393697.1:p.Ile88Val
  • NP_001393698.1:p.Ile88Val
  • NP_001393699.1:p.Ile88Val
  • NP_001393700.1:p.Ile88Val
  • NP_001393701.1:p.Ile88Val
  • NP_001393702.1:p.Ile88Val
  • NP_001393703.1:p.Ile88Val
  • NP_001393704.1:p.Ile88Val
  • NP_001393705.1:p.Ile88Val
  • NP_001393706.1:p.Ile88Val
  • NP_001393707.1:p.Ile88Val
  • NP_001393708.1:p.Ile88Val
  • NP_001393709.1:p.Ile88Val
  • NP_001393710.1:p.Ile88Val
  • NP_001393711.1:p.Ile88Val
  • NP_001393712.1:p.Ile88Val
  • NP_001393714.1:p.Ile88Val
  • NP_001393715.1:p.Ile88Val
  • NP_001393716.1:p.Ile88Val
  • NP_001393717.1:p.Ile88Val
  • NP_001393718.1:p.Ile88Val
  • NP_001393719.1:p.Ile88Val
  • NP_001393720.1:p.Ile88Val
  • NP_065680.1:p.Ile88Val
  • NP_065681.1:p.Ile88Val
  • NP_065681.1:p.Ile88Val
  • NP_065681.1:p.Ile88Val
  • NP_066124.1:p.Ile88Val
  • NP_066124.1:p.Ile88Val
  • LRG_518t1:c.262A>G
  • LRG_518t2:c.262A>G
  • LRG_518:g.28579A>G
  • LRG_518p1:p.Ile88Val
  • LRG_518p2:p.Ile88Val
  • NC_000010.10:g.43596095A>G
  • NM_020630.4:c.262A>G
  • NM_020630.6:c.262A>G
  • NM_020975.4:c.262A>G
Protein change:
I88V
Links:
dbSNP: rs141679950
NCBI 1000 Genomes Browser:
rs141679950
Molecular consequence:
  • NM_000323.2:c.262A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406743.1:c.262A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406744.1:c.262A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406759.1:c.262A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406760.1:c.262A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406761.1:c.262A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406762.1:c.262A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406763.1:c.262A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406764.1:c.262A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406765.1:c.262A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406766.1:c.262A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406767.1:c.262A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406768.1:c.262A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406769.1:c.262A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406770.1:c.262A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406771.1:c.262A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406772.1:c.262A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406773.1:c.262A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406774.1:c.262A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406775.1:c.262A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406776.1:c.262A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406777.1:c.262A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406778.1:c.262A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406779.1:c.262A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406780.1:c.262A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406781.1:c.262A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406782.1:c.262A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406783.1:c.262A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406785.1:c.262A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406786.1:c.262A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406787.1:c.262A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406788.1:c.262A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406789.1:c.262A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406790.1:c.262A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406791.1:c.262A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020629.2:c.262A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020630.7:c.262A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020975.6:c.262A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000489790Counsyl
criteria provided, single submitter

(Counsyl Autosomal Dominant Disease Classification criteria (2015))		Uncertain significance
(Mar 2, 2016) 		unknownclinical testing

Counsyl Autosomal Dominant Disease Classification criteria (2015),

Citation Link,

SCV000838366Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2017)		Likely benign
(Jul 2, 2018) 		unknownclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Counsyl, SCV000489790.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From Mendelics, SCV000838366.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 3, 2024