NM_020975.6(RET):c.341G>A (p.Arg114His) AND Hereditary cancer-predisposing syndrome

Germline classification:: Benign (2 submissions)
Last evaluated:: Apr 28, 2020
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000163885.13

Allele description [Variation Report for NM_020975.6(RET):c.341G>A (p.Arg114His)]

NM_020975.6(RET):c.341G>A (p.Arg114His)

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.341G>A (p.Arg114His)

HGVS:

NC_000010.11:g.43102345G>A
NG_007489.1:g.30277G>A
NM_000323.2:c.341G>A
NM_001406743.1:c.341G>A
NM_001406744.1:c.341G>A
NM_001406759.1:c.341G>A
NM_001406760.1:c.341G>A
NM_001406763.1:c.341G>A
NM_001406765.1:c.341G>A
NM_001406769.1:c.341G>A
NM_001406771.1:c.341G>A
NM_001406772.1:c.341G>A
NM_001406773.1:c.341G>A
NM_001406779.1:c.341G>A
NM_001406780.1:c.341G>A
NM_001406781.1:c.341G>A
NM_001406782.1:c.341G>A
NM_001406785.1:c.341G>A
NM_001406787.1:c.341G>A
NM_020629.2:c.341G>A
NM_020630.7:c.341G>A
NM_020975.6:c.341G>AMANE SELECT
NP_000314.1:p.Arg114His
NP_001393672.1:p.Arg114His
NP_001393673.1:p.Arg114His
NP_001393688.1:p.Arg114His
NP_001393689.1:p.Arg114His
NP_001393692.1:p.Arg114His
NP_001393694.1:p.Arg114His
NP_001393698.1:p.Arg114His
NP_001393700.1:p.Arg114His
NP_001393701.1:p.Arg114His
NP_001393702.1:p.Arg114His
NP_001393708.1:p.Arg114His
NP_001393709.1:p.Arg114His
NP_001393710.1:p.Arg114His
NP_001393711.1:p.Arg114His
NP_001393714.1:p.Arg114His
NP_001393716.1:p.Arg114His
NP_065680.1:p.Arg114His
NP_065681.1:p.Arg114His
NP_065681.1:p.Arg114His
NP_065681.1:p.Arg114His
NP_066124.1:p.Arg114His
NP_066124.1:p.Arg114His
LRG_518t1:c.341G>A
LRG_518t2:c.341G>A
LRG_518:g.30277G>A
LRG_518p1:p.Arg114His
LRG_518p2:p.Arg114His
NC_000010.10:g.43597793G>A
NM_020630.4:c.341G>A
NM_020630.6:c.341G>A
NM_020975.4:c.341G>A
P07949:p.Arg114His
p.R114H

Protein change:

R114H; ARG114HIS

Links:

UniProtKB: P07949#VAR_018154; OMIM: 164761.0045; dbSNP: rs76397662

NCBI 1000 Genomes Browser:

rs76397662

Molecular consequence:

NM_000323.2:c.341G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406743.1:c.341G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406744.1:c.341G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406759.1:c.341G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406760.1:c.341G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406763.1:c.341G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406765.1:c.341G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406769.1:c.341G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406771.1:c.341G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406772.1:c.341G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406773.1:c.341G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406779.1:c.341G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406780.1:c.341G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406781.1:c.341G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406782.1:c.341G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406785.1:c.341G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406787.1:c.341G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_020629.2:c.341G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_020630.7:c.341G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_020975.6:c.341G>A - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000214475	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Benign (Nov 9, 2015)	germline	clinical testing	PubMed (7) [See all records that cite these PMIDs] 12086152, 14633923, 20473317, 20532249, 22174939, 23084198, 24728327 Citation Link,
SCV002527911	Sema4, Sema4	criteria provided, single submitter (Sema4 Curation Guidelines)	Benign (Apr 28, 2020)	germline	curation	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000214475

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Benign
(Nov 9, 2015)

germline

clinical testing

PubMed (7)
[See all records that cite these PMIDs]

Citation Link,

SCV002527911

Sema4, Sema4

criteria provided, single submitter

(Sema4 Curation Guidelines)

Benign
(Apr 28, 2020)

germline

curation

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, curation

Citations

PubMed

Congenital central hypoventilation syndrome: a novel mutation of the RET gene in an isolated case.

Kanai M, Numakura C, Sasaki A, Shirahata E, Akaba K, Hashimoto M, Hasegawa H, Shirasawa S, Hayasaka K.

Tohoku J Exp Med. 2002 Apr;196(4):241-6.

PubMed [citation]

PMID:: 12086152

Highly recurrent RET mutations and novel mutations in genes of the receptor tyrosine kinase and endothelin receptor B pathways in Chinese patients with sporadic Hirschsprung disease.

Garcia-Barceló M, Sham MH, Lee WS, Lui VC, Chen BL, Wong KK, Wong JS, Tam PK.

Clin Chem. 2004 Jan;50(1):93-100. Epub 2003 Nov 18.

PubMed [citation]

PMID:: 14633923

See all PubMed Citations (7)

Details of each submission

From Ambry Genetics, SCV000214475.7

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (7)

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

From Sema4, Sema4, SCV002527911.1

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

#	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 24, 2024

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