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

Recent activity

Clear Turn Off Turn On

unknown [Salmonella enterica subsp. enterica serovar Typhimurium]
unknown [Salmonella enterica subsp. enterica serovar Typhimurium]
gi|10946232|gb|AAG24806.1|

Protein
Rattus norvegicus brain mRNA for cysteine-sulfinate decarboxylase
Rattus norvegicus brain mRNA for cysteine-sulfinate decarboxylase
gi|5830495|emb|AJ132661.1|

Nucleotide
Homo sapiens FKBP prolyl isomerase 2 (FKBP2), transcript variant 1, mRNA
Homo sapiens FKBP prolyl isomerase 2 (FKBP2), transcript variant 1, mRNA
gi|1519313817|ref|NM_004470.4|

Nucleotide
FACS-MDA of PG1894-88
FACS-MDA of PG1894-88

biosample
ferrochelatase, mitochondrial isoform d [Homo sapiens]
ferrochelatase, mitochondrial isoform d [Homo sapiens]
gi|1694437629|ref|NP_001358024.1|

Protein

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000664576	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Benign (Nov 4, 2021)	germline	clinical testing	PubMed (8) [See all records that cite these PMIDs] 12566528, 20456320, 21479187, 22648184, 22837065, 24055113, 25637381, 29338689 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000664576

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Benign
(Nov 4, 2021)

germline

clinical testing

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

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical 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.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 10, 2024

ClinVar

Relating variation to medicine