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NM_020975.6(RET):c.2410G>T (p.Val804Leu) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 1, 2016
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:
RCV000487450.11

Allele description [Variation Report for NM_020975.6(RET):c.2410G>T (p.Val804Leu)]

NM_020975.6(RET):c.2410G>T (p.Val804Leu)

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.2410G>T (p.Val804Leu)
HGVS:
  • NC_000010.11:g.43119548G>T
  • NG_007489.1:g.47480G>T
  • NM_000323.2:c.2410G>T
  • NM_001355216.2:c.1648G>T
  • NM_001406743.1:c.2410G>T
  • NM_001406744.1:c.2410G>T
  • NM_001406759.1:c.2410G>T
  • NM_001406760.1:c.2410G>T
  • NM_001406761.1:c.2281G>T
  • NM_001406762.1:c.2281G>T
  • NM_001406763.1:c.2275G>T
  • NM_001406764.1:c.2281G>T
  • NM_001406765.1:c.2275G>T
  • NM_001406766.1:c.2122G>T
  • NM_001406767.1:c.2122G>T
  • NM_001406768.1:c.2146G>T
  • NM_001406769.1:c.2014G>T
  • NM_001406770.1:c.2122G>T
  • NM_001406771.1:c.1972G>T
  • NM_001406772.1:c.2014G>T
  • NM_001406773.1:c.1972G>T
  • NM_001406774.1:c.1885G>T
  • NM_001406775.1:c.1684G>T
  • NM_001406776.1:c.1684G>T
  • NM_001406777.1:c.1684G>T
  • NM_001406778.1:c.1684G>T
  • NM_001406779.1:c.1513G>T
  • NM_001406780.1:c.1513G>T
  • NM_001406781.1:c.1513G>T
  • NM_001406782.1:c.1513G>T
  • NM_001406783.1:c.1384G>T
  • NM_001406784.1:c.1420G>T
  • NM_001406785.1:c.1393G>T
  • NM_001406786.1:c.1384G>T
  • NM_001406787.1:c.1378G>T
  • NM_001406788.1:c.1225G>T
  • NM_001406789.1:c.1225G>T
  • NM_001406790.1:c.1225G>T
  • NM_001406791.1:c.1105G>T
  • NM_001406792.1:c.961G>T
  • NM_001406793.1:c.961G>T
  • NM_001406794.1:c.961G>T
  • NM_020629.2:c.2410G>T
  • NM_020630.7:c.2410G>T
  • NM_020975.6:c.2410G>TMANE SELECT
  • NP_000314.1:p.Val804Leu
  • NP_001342145.1:p.Val550Leu
  • NP_001342145.1:p.Val550Leu
  • NP_001393672.1:p.Val804Leu
  • NP_001393673.1:p.Val804Leu
  • NP_001393688.1:p.Val804Leu
  • NP_001393689.1:p.Val804Leu
  • NP_001393690.1:p.Val761Leu
  • NP_001393691.1:p.Val761Leu
  • NP_001393692.1:p.Val759Leu
  • NP_001393693.1:p.Val761Leu
  • NP_001393694.1:p.Val759Leu
  • NP_001393695.1:p.Val708Leu
  • NP_001393696.1:p.Val708Leu
  • NP_001393697.1:p.Val716Leu
  • NP_001393698.1:p.Val672Leu
  • NP_001393699.1:p.Val708Leu
  • NP_001393700.1:p.Val658Leu
  • NP_001393701.1:p.Val672Leu
  • NP_001393702.1:p.Val658Leu
  • NP_001393703.1:p.Val629Leu
  • NP_001393704.1:p.Val562Leu
  • NP_001393705.1:p.Val562Leu
  • NP_001393706.1:p.Val562Leu
  • NP_001393707.1:p.Val562Leu
  • NP_001393708.1:p.Val505Leu
  • NP_001393709.1:p.Val505Leu
  • NP_001393710.1:p.Val505Leu
  • NP_001393711.1:p.Val505Leu
  • NP_001393712.1:p.Val462Leu
  • NP_001393713.1:p.Val474Leu
  • NP_001393714.1:p.Val465Leu
  • NP_001393715.1:p.Val462Leu
  • NP_001393716.1:p.Val460Leu
  • NP_001393717.1:p.Val409Leu
  • NP_001393718.1:p.Val409Leu
  • NP_001393719.1:p.Val409Leu
  • NP_001393720.1:p.Val369Leu
  • NP_001393721.1:p.Val321Leu
  • NP_001393722.1:p.Val321Leu
  • NP_001393723.1:p.Val321Leu
  • NP_065680.1:p.Val804Leu
  • NP_065681.1:p.Val804Leu
  • NP_065681.1:p.Val804Leu
  • NP_065681.1:p.Val804Leu
  • NP_066124.1:p.Val804Leu
  • NP_066124.1:p.Val804Leu
  • LRG_518t1:c.2410G>T
  • LRG_518t2:c.2410G>T
  • LRG_518:g.47480G>T
  • LRG_518p1:p.Val804Leu
  • LRG_518p2:p.Val804Leu
  • NC_000010.10:g.43614996G>T
  • NM_001355216.1:c.1648G>T
  • NM_020630.4:c.2410G>T
  • NM_020630.6:c.2410G>T
  • NM_020975.4:c.2410G>T
  • P07949:p.Val804Leu
Protein change:
V321L; VAL804LEU
Links:
UniProtKB: P07949#VAR_006336; OMIM: 164761.0044; dbSNP: rs79658334
NCBI 1000 Genomes Browser:
rs79658334
Molecular consequence:
  • NM_000323.2:c.2410G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001355216.2:c.1648G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406743.1:c.2410G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406744.1:c.2410G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406759.1:c.2410G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406760.1:c.2410G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406761.1:c.2281G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406762.1:c.2281G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406763.1:c.2275G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406764.1:c.2281G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406765.1:c.2275G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406766.1:c.2122G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406767.1:c.2122G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406768.1:c.2146G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406769.1:c.2014G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406770.1:c.2122G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406771.1:c.1972G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406772.1:c.2014G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406773.1:c.1972G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406774.1:c.1885G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406775.1:c.1684G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406776.1:c.1684G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406777.1:c.1684G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406778.1:c.1684G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406779.1:c.1513G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406780.1:c.1513G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406781.1:c.1513G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406782.1:c.1513G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406783.1:c.1384G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406784.1:c.1420G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406785.1:c.1393G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406786.1:c.1384G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406787.1:c.1378G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406788.1:c.1225G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406789.1:c.1225G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406790.1:c.1225G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406791.1:c.1105G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406792.1:c.961G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406793.1:c.961G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406794.1:c.961G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020629.2:c.2410G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020630.7:c.2410G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020975.6:c.2410G>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Familial medullary thyroid carcinoma (MTC)
Synonyms:
Thyroid cancer, familial medullary; MTC, familial
Identifiers:
MONDO: MONDO:0007958; MedGen: C1833921; Orphanet: 653; OMIM: 155240
Name:
Multiple endocrine neoplasia
Identifiers:
MONDO: MONDO:0017169; MedGen: C0027662; OMIM: PS131100

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000574540GenePathDx, GenePath diagnostics
criteria provided, single submitter

(GenePathDx_Criteria_classificationV2)		Pathogenic
(Oct 1, 2016) 		germlineclinical testing

GenePathDx_Criteria_classificationV2.doc

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes11not providednot providednot providedclinical testing

Details of each submission

From GenePathDx, GenePath diagnostics, SCV000574540.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not provided1not provided

Last Updated: Jul 23, 2024