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NM_020975.6(RET):c.509C>T (p.Thr170Ile) AND not provided

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Dec 29, 2023
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:
RCV000034776.3

Allele description [Variation Report for NM_020975.6(RET):c.509C>T (p.Thr170Ile)]

NM_020975.6(RET):c.509C>T (p.Thr170Ile)

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.509C>T (p.Thr170Ile)
HGVS:
  • NC_000010.11:g.43102513C>T
  • NG_007489.1:g.30445C>T
  • NM_000323.2:c.509C>T
  • NM_001406743.1:c.509C>T
  • NM_001406744.1:c.509C>T
  • NM_001406759.1:c.509C>T
  • NM_001406760.1:c.509C>T
  • NM_001406761.1:c.380C>T
  • NM_001406762.1:c.380C>T
  • NM_001406763.1:c.509C>T
  • NM_001406764.1:c.380C>T
  • NM_001406765.1:c.509C>T
  • NM_001406768.1:c.380C>T
  • NM_001406769.1:c.509C>T
  • NM_001406771.1:c.509C>T
  • NM_001406772.1:c.509C>T
  • NM_001406773.1:c.509C>T
  • NM_001406774.1:c.380C>T
  • NM_001406779.1:c.509C>T
  • NM_001406780.1:c.509C>T
  • NM_001406781.1:c.509C>T
  • NM_001406782.1:c.509C>T
  • NM_001406783.1:c.380C>T
  • NM_001406785.1:c.509C>T
  • NM_001406786.1:c.380C>T
  • NM_001406787.1:c.509C>T
  • NM_020629.2:c.509C>T
  • NM_020630.7:c.509C>T
  • NM_020975.6:c.509C>TMANE SELECT
  • NP_000314.1:p.Thr170Ile
  • NP_001393672.1:p.Thr170Ile
  • NP_001393673.1:p.Thr170Ile
  • NP_001393688.1:p.Thr170Ile
  • NP_001393689.1:p.Thr170Ile
  • NP_001393690.1:p.Thr127Ile
  • NP_001393691.1:p.Thr127Ile
  • NP_001393692.1:p.Thr170Ile
  • NP_001393693.1:p.Thr127Ile
  • NP_001393694.1:p.Thr170Ile
  • NP_001393697.1:p.Thr127Ile
  • NP_001393698.1:p.Thr170Ile
  • NP_001393700.1:p.Thr170Ile
  • NP_001393701.1:p.Thr170Ile
  • NP_001393702.1:p.Thr170Ile
  • NP_001393703.1:p.Thr127Ile
  • NP_001393708.1:p.Thr170Ile
  • NP_001393709.1:p.Thr170Ile
  • NP_001393710.1:p.Thr170Ile
  • NP_001393711.1:p.Thr170Ile
  • NP_001393712.1:p.Thr127Ile
  • NP_001393714.1:p.Thr170Ile
  • NP_001393715.1:p.Thr127Ile
  • NP_001393716.1:p.Thr170Ile
  • NP_065680.1:p.Thr170Ile
  • NP_065681.1:p.Thr170Ile
  • NP_065681.1:p.Thr170Ile
  • NP_065681.1:p.Thr170Ile
  • NP_066124.1:p.Thr170Ile
  • NP_066124.1:p.Thr170Ile
  • LRG_518t1:c.509C>T
  • LRG_518t2:c.509C>T
  • LRG_518:g.30445C>T
  • LRG_518p1:p.Thr170Ile
  • LRG_518p2:p.Thr170Ile
  • NC_000010.10:g.43597961C>T
  • NM_020630.4:c.509C>T
  • NM_020630.6:c.509C>T
  • NM_020975.4:c.509C>T
Protein change:
T127I
Links:
dbSNP: rs200547906
NCBI 1000 Genomes Browser:
rs200547906
Molecular consequence:
  • NM_000323.2:c.509C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406743.1:c.509C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406744.1:c.509C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406759.1:c.509C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406760.1:c.509C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406761.1:c.380C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406762.1:c.380C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406763.1:c.509C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406764.1:c.380C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406765.1:c.509C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406768.1:c.380C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406769.1:c.509C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406771.1:c.509C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406772.1:c.509C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406773.1:c.509C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406774.1:c.380C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406779.1:c.509C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406780.1:c.509C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406781.1:c.509C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406782.1:c.509C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406783.1:c.380C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406785.1:c.509C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406786.1:c.380C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406787.1:c.509C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020629.2:c.509C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020630.7:c.509C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020975.6:c.509C>T - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000043469Biesecker 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]

SCV005383994GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Dec 29, 2023) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineno1not providednot provided572not providedresearch
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

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

Details of each submission

From Biesecker Lab/Clinical Genomics Section, National Institutes of Health - ClinSeq, SCV000043469.1

#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
1germlineno572not provideddiscovery1not providednot providednot provided

From GeneDx, SCV005383994.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot 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; Observed in an individual with atherosclerosis undergoing whole exome sequencing (PMID: 22703879); This variant is associated with the following publications: (PMID: 14633923, 22703879)

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

Last Updated: Nov 3, 2024