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NM_020975.6(RET):c.2522C>T (p.Pro841Leu) AND Hereditary cancer-predisposing syndrome

Germline classification:
Benign (1 submission)
Last evaluated:
Nov 4, 2021
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:
RCV000575365.13

Allele description [Variation Report for NM_020975.6(RET):c.2522C>T (p.Pro841Leu)]

NM_020975.6(RET):c.2522C>T (p.Pro841Leu)

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.2522C>T (p.Pro841Leu)
HGVS:
  • NC_000010.11:g.43119660C>T
  • NG_007489.1:g.47592C>T
  • NM_000323.2:c.2522C>T
  • NM_001355216.2:c.1760C>T
  • NM_001406743.1:c.2522C>T
  • NM_001406744.1:c.2522C>T
  • NM_001406759.1:c.2522C>T
  • NM_001406760.1:c.2522C>T
  • NM_001406761.1:c.2393C>T
  • NM_001406762.1:c.2393C>T
  • NM_001406763.1:c.2387C>T
  • NM_001406764.1:c.2393C>T
  • NM_001406765.1:c.2387C>T
  • NM_001406766.1:c.2234C>T
  • NM_001406767.1:c.2234C>T
  • NM_001406768.1:c.2258C>T
  • NM_001406769.1:c.2126C>T
  • NM_001406770.1:c.2234C>T
  • NM_001406771.1:c.2084C>T
  • NM_001406772.1:c.2126C>T
  • NM_001406773.1:c.2084C>T
  • NM_001406774.1:c.1997C>T
  • NM_001406775.1:c.1796C>T
  • NM_001406776.1:c.1796C>T
  • NM_001406777.1:c.1796C>T
  • NM_001406778.1:c.1796C>T
  • NM_001406779.1:c.1625C>T
  • NM_001406780.1:c.1625C>T
  • NM_001406781.1:c.1625C>T
  • NM_001406782.1:c.1625C>T
  • NM_001406783.1:c.1496C>T
  • NM_001406784.1:c.1532C>T
  • NM_001406785.1:c.1505C>T
  • NM_001406786.1:c.1496C>T
  • NM_001406787.1:c.1490C>T
  • NM_001406788.1:c.1337C>T
  • NM_001406789.1:c.1337C>T
  • NM_001406790.1:c.1337C>T
  • NM_001406791.1:c.1217C>T
  • NM_001406792.1:c.1073C>T
  • NM_001406793.1:c.1073C>T
  • NM_001406794.1:c.1073C>T
  • NM_020629.2:c.2522C>T
  • NM_020630.7:c.2522C>T
  • NM_020975.6:c.2522C>TMANE SELECT
  • NP_000314.1:p.Pro841Leu
  • NP_001342145.1:p.Pro587Leu
  • NP_001342145.1:p.Pro587Leu
  • NP_001393672.1:p.Pro841Leu
  • NP_001393673.1:p.Pro841Leu
  • NP_001393688.1:p.Pro841Leu
  • NP_001393689.1:p.Pro841Leu
  • NP_001393690.1:p.Pro798Leu
  • NP_001393691.1:p.Pro798Leu
  • NP_001393692.1:p.Pro796Leu
  • NP_001393693.1:p.Pro798Leu
  • NP_001393694.1:p.Pro796Leu
  • NP_001393695.1:p.Pro745Leu
  • NP_001393696.1:p.Pro745Leu
  • NP_001393697.1:p.Pro753Leu
  • NP_001393698.1:p.Pro709Leu
  • NP_001393699.1:p.Pro745Leu
  • NP_001393700.1:p.Pro695Leu
  • NP_001393701.1:p.Pro709Leu
  • NP_001393702.1:p.Pro695Leu
  • NP_001393703.1:p.Pro666Leu
  • NP_001393704.1:p.Pro599Leu
  • NP_001393705.1:p.Pro599Leu
  • NP_001393706.1:p.Pro599Leu
  • NP_001393707.1:p.Pro599Leu
  • NP_001393708.1:p.Pro542Leu
  • NP_001393709.1:p.Pro542Leu
  • NP_001393710.1:p.Pro542Leu
  • NP_001393711.1:p.Pro542Leu
  • NP_001393712.1:p.Pro499Leu
  • NP_001393713.1:p.Pro511Leu
  • NP_001393714.1:p.Pro502Leu
  • NP_001393715.1:p.Pro499Leu
  • NP_001393716.1:p.Pro497Leu
  • NP_001393717.1:p.Pro446Leu
  • NP_001393718.1:p.Pro446Leu
  • NP_001393719.1:p.Pro446Leu
  • NP_001393720.1:p.Pro406Leu
  • NP_001393721.1:p.Pro358Leu
  • NP_001393722.1:p.Pro358Leu
  • NP_001393723.1:p.Pro358Leu
  • NP_065680.1:p.Pro841Leu
  • NP_065681.1:p.Pro841Leu
  • NP_065681.1:p.Pro841Leu
  • NP_065681.1:p.Pro841Leu
  • NP_066124.1:p.Pro841Leu
  • NP_066124.1:p.Pro841Leu
  • LRG_518t1:c.2522C>T
  • LRG_518t2:c.2522C>T
  • LRG_518:g.47592C>T
  • LRG_518p1:p.Pro841Leu
  • LRG_518p2:p.Pro841Leu
  • NC_000010.10:g.43615108C>T
  • NM_001355216.1:c.1760C>T
  • NM_020630.4:c.2522C>T
  • NM_020630.6:c.2522C>T
  • NM_020975.4:c.2522C>T
Protein change:
P358L
Links:
dbSNP: rs149891333
NCBI 1000 Genomes Browser:
rs149891333
Molecular consequence:
  • NM_000323.2:c.2522C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001355216.2:c.1760C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406743.1:c.2522C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406744.1:c.2522C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406759.1:c.2522C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406760.1:c.2522C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406761.1:c.2393C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406762.1:c.2393C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406763.1:c.2387C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406764.1:c.2393C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406765.1:c.2387C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406766.1:c.2234C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406767.1:c.2234C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406768.1:c.2258C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406769.1:c.2126C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406770.1:c.2234C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406771.1:c.2084C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406772.1:c.2126C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406773.1:c.2084C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406774.1:c.1997C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406775.1:c.1796C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406776.1:c.1796C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406777.1:c.1796C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406778.1:c.1796C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406779.1:c.1625C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406780.1:c.1625C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406781.1:c.1625C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406782.1:c.1625C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406783.1:c.1496C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406784.1:c.1532C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406785.1:c.1505C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406786.1:c.1496C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406787.1:c.1490C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406788.1:c.1337C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406789.1:c.1337C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406790.1:c.1337C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406791.1:c.1217C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406792.1:c.1073C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406793.1:c.1073C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406794.1:c.1073C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020629.2:c.2522C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020630.7:c.2522C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020975.6:c.2522C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000664576Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Benign
(Nov 4, 2021) 		germlineclinical testing

PubMed (8)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Association of germline mutations and polymorphisms of the RET proto-oncogene with idiopathic congenital central hypoventilation syndrome in 33 patients.

Fitze G, Paditz E, Schläfke M, Kuhlisch E, Roesner D, Schackert HK.

J Med Genet. 2003 Feb;40(2):E10. No abstract available.

PubMed [citation]
PMID:
12566528
PMCID:
PMC1735365

Analysis of RET, ZEB2, EDN3 and GDNF genomic rearrangements in central congenital hyperventilation syndrome patients by multiplex ligation-dependent probe amplification.

Serra A, Görgens H, Alhadad K, Fitze G, Schackert HK.

Ann Hum Genet. 2010 Jul;74(4):369-74. doi: 10.1111/j.1469-1809.2010.00577.x. Epub 2010 Apr 25.

PubMed [citation]
PMID:
20456320
See all PubMed Citations (8)

Details of each submission

From Ambry Genetics, SCV000664576.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (8)

Description

This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Oct 8, 2024