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NM_020975.6(RET):c.1998G>T (p.Lys666Asn) AND Familial medullary thyroid carcinoma

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Oct 31, 2019
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:
RCV001027731.9

Allele description [Variation Report for NM_020975.6(RET):c.1998G>T (p.Lys666Asn)]

NM_020975.6(RET):c.1998G>T (p.Lys666Asn)

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.1998G>T (p.Lys666Asn)
HGVS:
  • NC_000010.11:g.43114598G>T
  • NG_007489.1:g.42530G>T
  • NM_000323.2:c.1998G>T
  • NM_001355216.2:c.1236G>T
  • NM_001406743.1:c.1998G>T
  • NM_001406744.1:c.1998G>T
  • NM_001406759.1:c.1998G>T
  • NM_001406760.1:c.1998G>T
  • NM_001406761.1:c.1869G>T
  • NM_001406762.1:c.1869G>T
  • NM_001406764.1:c.1869G>T
  • NM_001406766.1:c.1710G>T
  • NM_001406767.1:c.1710G>T
  • NM_001406769.1:c.1602G>T
  • NM_001406770.1:c.1710G>T
  • NM_001406771.1:c.1560G>T
  • NM_001406772.1:c.1602G>T
  • NM_001406773.1:c.1560G>T
  • NM_001406774.1:c.1473G>T
  • NM_001406775.1:c.1272G>T
  • NM_001406776.1:c.1272G>T
  • NM_001406777.1:c.1272G>T
  • NM_001406778.1:c.1272G>T
  • NM_001406779.1:c.1101G>T
  • NM_001406780.1:c.1101G>T
  • NM_001406781.1:c.1101G>T
  • NM_001406782.1:c.1101G>T
  • NM_001406783.1:c.972G>T
  • NM_001406784.1:c.1008G>T
  • NM_001406785.1:c.981G>T
  • NM_001406786.1:c.972G>T
  • NM_001406788.1:c.813G>T
  • NM_001406789.1:c.813G>T
  • NM_001406790.1:c.813G>T
  • NM_001406791.1:c.693G>T
  • NM_001406792.1:c.549G>T
  • NM_001406793.1:c.549G>T
  • NM_001406794.1:c.549G>T
  • NM_020629.2:c.1998G>T
  • NM_020630.7:c.1998G>T
  • NM_020975.6:c.1998G>TMANE SELECT
  • NP_000314.1:p.Lys666Asn
  • NP_001342145.1:p.Lys412Asn
  • NP_001342145.1:p.Lys412Asn
  • NP_001393672.1:p.Lys666Asn
  • NP_001393673.1:p.Lys666Asn
  • NP_001393688.1:p.Lys666Asn
  • NP_001393689.1:p.Lys666Asn
  • NP_001393690.1:p.Lys623Asn
  • NP_001393691.1:p.Lys623Asn
  • NP_001393693.1:p.Lys623Asn
  • NP_001393695.1:p.Lys570Asn
  • NP_001393696.1:p.Lys570Asn
  • NP_001393698.1:p.Lys534Asn
  • NP_001393699.1:p.Lys570Asn
  • NP_001393700.1:p.Lys520Asn
  • NP_001393701.1:p.Lys534Asn
  • NP_001393702.1:p.Lys520Asn
  • NP_001393703.1:p.Lys491Asn
  • NP_001393704.1:p.Lys424Asn
  • NP_001393705.1:p.Lys424Asn
  • NP_001393706.1:p.Lys424Asn
  • NP_001393707.1:p.Lys424Asn
  • NP_001393708.1:p.Lys367Asn
  • NP_001393709.1:p.Lys367Asn
  • NP_001393710.1:p.Lys367Asn
  • NP_001393711.1:p.Lys367Asn
  • NP_001393712.1:p.Lys324Asn
  • NP_001393713.1:p.Lys336Asn
  • NP_001393714.1:p.Lys327Asn
  • NP_001393715.1:p.Lys324Asn
  • NP_001393717.1:p.Lys271Asn
  • NP_001393718.1:p.Lys271Asn
  • NP_001393719.1:p.Lys271Asn
  • NP_001393720.1:p.Lys231Asn
  • NP_001393721.1:p.Lys183Asn
  • NP_001393722.1:p.Lys183Asn
  • NP_001393723.1:p.Lys183Asn
  • NP_065680.1:p.Lys666Asn
  • NP_065681.1:p.Lys666Asn
  • NP_065681.1:p.Lys666Asn
  • NP_065681.1:p.Lys666Asn
  • NP_066124.1:p.Lys666Asn
  • NP_066124.1:p.Lys666Asn
  • NP_066124.1:p.Lys666Asn
  • LRG_518t1:c.1998G>T
  • LRG_518t2:c.1998G>T
  • LRG_518:g.42530G>T
  • LRG_518p1:p.Lys666Asn
  • LRG_518p2:p.Lys666Asn
  • NC_000010.10:g.43610046G>T
  • NM_001355216.1:c.1236G>T
  • NM_020630.4:c.1998G>T
  • NM_020630.5:c.1998G>T
  • NM_020630.6:c.1998G>T
  • NM_020975.4:c.1998G>T
Protein change:
K183N
Links:
dbSNP: rs146646971
NCBI 1000 Genomes Browser:
rs146646971
Molecular consequence:
  • NM_000323.2:c.1998G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001355216.2:c.1236G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406743.1:c.1998G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406744.1:c.1998G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406759.1:c.1998G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406760.1:c.1998G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406761.1:c.1869G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406762.1:c.1869G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406764.1:c.1869G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406766.1:c.1710G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406767.1:c.1710G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406769.1:c.1602G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406770.1:c.1710G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406771.1:c.1560G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406772.1:c.1602G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406773.1:c.1560G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406774.1:c.1473G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406775.1:c.1272G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406776.1:c.1272G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406777.1:c.1272G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406778.1:c.1272G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406779.1:c.1101G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406780.1:c.1101G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406781.1:c.1101G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406782.1:c.1101G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406783.1:c.972G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406784.1:c.1008G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406785.1:c.981G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406786.1:c.972G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406788.1:c.813G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406789.1:c.813G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406790.1:c.813G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406791.1:c.693G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406792.1:c.549G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406793.1:c.549G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406794.1:c.549G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020629.2:c.1998G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020630.7:c.1998G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020975.6:c.1998G>T - missense variant - [Sequence Ontology: SO:0001583]

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001190322HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - AGHI GT
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Oct 31, 2019) 		unknownresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknown1not providednot provided1not providedresearch

Citations

PubMed

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 HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - AGHI GT, SCV001190322.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknown1not providednot provided1not providednot providednot provided

Last Updated: Nov 24, 2024