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NM_020975.6(RET):c.785T>C (p.Val262Ala) AND not provided

Germline classification:
Likely benign (4 submissions)
Last evaluated:
Feb 1, 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:
RCV000034777.24

Allele description [Variation Report for NM_020975.6(RET):c.785T>C (p.Val262Ala)]

NM_020975.6(RET):c.785T>C (p.Val262Ala)

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.785T>C (p.Val262Ala)
HGVS:
  • NC_000010.11:g.43105111T>C
  • NG_007489.1:g.33043T>C
  • NM_000323.2:c.785T>C
  • NM_001355216.2:c.23T>C
  • NM_001406743.1:c.785T>C
  • NM_001406744.1:c.785T>C
  • NM_001406759.1:c.785T>C
  • NM_001406760.1:c.785T>C
  • NM_001406761.1:c.656T>C
  • NM_001406762.1:c.656T>C
  • NM_001406763.1:c.785T>C
  • NM_001406764.1:c.656T>C
  • NM_001406765.1:c.785T>C
  • NM_001406766.1:c.497T>C
  • NM_001406767.1:c.497T>C
  • NM_001406768.1:c.656T>C
  • NM_001406769.1:c.785T>C
  • NM_001406770.1:c.497T>C
  • NM_001406772.1:c.785T>C
  • NM_001406774.1:c.656T>C
  • NM_020629.2:c.785T>C
  • NM_020630.7:c.785T>C
  • NM_020975.6:c.785T>CMANE SELECT
  • NP_000314.1:p.Val262Ala
  • NP_001342145.1:p.Val8Ala
  • NP_001342145.1:p.Val8Ala
  • NP_001393672.1:p.Val262Ala
  • NP_001393673.1:p.Val262Ala
  • NP_001393688.1:p.Val262Ala
  • NP_001393689.1:p.Val262Ala
  • NP_001393690.1:p.Val219Ala
  • NP_001393691.1:p.Val219Ala
  • NP_001393692.1:p.Val262Ala
  • NP_001393693.1:p.Val219Ala
  • NP_001393694.1:p.Val262Ala
  • NP_001393695.1:p.Val166Ala
  • NP_001393696.1:p.Val166Ala
  • NP_001393697.1:p.Val219Ala
  • NP_001393698.1:p.Val262Ala
  • NP_001393699.1:p.Val166Ala
  • NP_001393701.1:p.Val262Ala
  • NP_001393703.1:p.Val219Ala
  • NP_065680.1:p.Val262Ala
  • NP_065681.1:p.Val262Ala
  • NP_065681.1:p.Val262Ala
  • NP_065681.1:p.Val262Ala
  • NP_066124.1:p.Val262Ala
  • NP_066124.1:p.Val262Ala
  • LRG_518t1:c.785T>C
  • LRG_518t2:c.785T>C
  • LRG_518:g.33043T>C
  • LRG_518p1:p.Val262Ala
  • LRG_518p2:p.Val262Ala
  • NC_000010.10:g.43600559T>C
  • NM_001355216.1:c.23T>C
  • NM_020630.4:c.785T>C
  • NM_020630.6:c.785T>C
  • NM_020975.4:c.785T>C
  • NM_020975.5:c.785T>C
Protein change:
V166A
Links:
dbSNP: rs139790943
NCBI 1000 Genomes Browser:
rs139790943
Molecular consequence:
  • NM_000323.2:c.785T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001355216.2:c.23T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406743.1:c.785T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406744.1:c.785T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406759.1:c.785T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406760.1:c.785T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406761.1:c.656T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406762.1:c.656T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406763.1:c.785T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406764.1:c.656T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406765.1:c.785T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406766.1:c.497T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406767.1:c.497T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406768.1:c.656T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406769.1:c.785T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406770.1:c.497T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406772.1:c.785T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406774.1:c.656T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020629.2:c.785T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020630.7:c.785T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020975.6:c.785T>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
4

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000043470Biesecker Lab/Clinical Genomics Section, National Institutes of Health - ClinSeq
no assertion criteria provided
variant of unknown significance
(Jul 13, 2012) 		germlineresearch

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

SCV000279597GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Likely benign
(Mar 30, 2022) 		germlineclinical testing

Citation Link,

SCV000920669Gharavi Laboratory, Columbia University
no assertion criteria provided

(ACMG Guidelines, 2015)		Uncertain significance
(Sep 16, 2018) 		germlineresearch

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

SCV002062909CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)		Likely benign
(Feb 1, 2024) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes4not providednot providednot providednot providedclinical testing
not providedgermlineno1not providednot provided439not providedresearch

Citations

PubMed

Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.

Johnston JJ, Rubinstein WS, Facio FM, Ng D, Singh LN, Teer JK, Mullikin JC, Biesecker LG.

Am J Hum Genet. 2012 Jul 13;91(1):97-108. doi: 10.1016/j.ajhg.2012.05.021. Epub 2012 Jun 14.

PubMed [citation]
PMID:
22703879
PMCID:
PMC3397257

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 Biesecker Lab/Clinical Genomics Section, National Institutes of Health - ClinSeq, SCV000043470.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)

Description

The study set was not selected for affection status in relation to any cancer. Pathogenicity categories were based on literature curation. See PubMed ID:22703879 for details.

Description

Converted during submission to Uncertain significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineno439not provideddiscovery1not providednot providednot provided

From GeneDx, SCV000279597.11

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant is associated with the following publications: (PMID: 25637381, 24336963, 11955539, 20956458, 22703879, 24055113, 15956201, 27884173, 31159747, 31614935)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Gharavi Laboratory, Columbia University, SCV000920669.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

From CeGaT Center for Human Genetics Tuebingen, SCV002062909.13

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided4not providednot providedclinical testingnot provided

Description

RET: BS2

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided4not providednot providednot provided

Last Updated: Jun 9, 2024