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NM_020975.6(RET):c.2523G>A (p.Pro841=) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 4, 2018
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000021862.2

Allele description

NM_020975.6(RET):c.2523G>A (p.Pro841=)

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.2523G>A (p.Pro841=)
Other names:
P841P
HGVS:
  • NC_000010.11:g.43119661G>A
  • NG_007489.1:g.47593G>A
  • NM_001355216.1:c.1761G>A
  • NM_020630.6:c.2523G>A
  • NM_020975.6:c.2523G>AMANE SELECT
  • NP_001342145.1:p.Pro587=
  • NP_065681.1:p.Pro841=
  • NP_066124.1:p.Pro841=
  • LRG_518t1:c.2523G>A
  • LRG_518t2:c.2523G>A
  • LRG_518:g.47593G>A
  • NC_000010.10:g.43615109G>A
  • NM_020630.4:c.2523G>A
  • NM_020975.4:c.2523G>A
Links:
dbSNP: rs56195026
NCBI 1000 Genomes Browser:
rs56195026
Molecular consequence:
  • NM_001355216.1:c.1761G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_020630.6:c.2523G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_020975.6:c.2523G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000042528Research and Development, ARUP Laboratories
no assertion criteria provided
Uncertain significance
(May 4, 2018) 		germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Novel germline RET proto-oncogene mutations associated with medullary thyroid carcinoma (MTC): mutation analysis in Japanese patients with MTC.

Kitamura Y, Goodfellow PJ, Shimizu K, Nagahama M, Ito K, Kitagawa W, Akasu H, Takami H, Tanaka S, Wells SA Jr.

Oncogene. 1997 Jun 26;14(25):3103-6.

PubMed [citation]
PMID:
9223675

Patterns of somatic mutation in human cancer genomes.

Greenman C, Stephens P, Smith R, Dalgliesh GL, Hunter C, Bignell G, Davies H, Teague J, Butler A, Stevens C, Edkins S, O'Meara S, Vastrik I, Schmidt EE, Avis T, Barthorpe S, Bhamra G, Buck G, Choudhury B, Clements J, Cole J, Dicks E, et al.

Nature. 2007 Mar 8;446(7132):153-8.

PubMed [citation]
PMID:
17344846
PMCID:
PMC2712719

Details of each submission

From Research and Development, ARUP Laboratories, SCV000042528.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

First report, single Japanese individual: MTC only. Second report, p.P841P was found in the germline of a 65yr old gastric cancer patient: No mention of MEN2 screening (PMID 17344846). Likely benign for MEN2 due to silent change.

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

Last Updated: Oct 30, 2021