NM_020975.6(RET):c.375C>A (p.Val125=) AND not provided

Germline classification:: Benign (3 submissions)
Last evaluated:: Apr 1, 2024
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:: RCV000712298.30

Allele description [Variation Report for NM_020975.6(RET):c.375C>A (p.Val125=)]

NM_020975.6(RET):c.375C>A (p.Val125=)

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.375C>A (p.Val125=)

HGVS:

NC_000010.11:g.43102379C>A
NG_007489.1:g.30311C>A
NM_000323.2:c.375C>A
NM_001406743.1:c.375C>A
NM_001406744.1:c.375C>A
NM_001406759.1:c.375C>A
NM_001406760.1:c.375C>A
NM_001406761.1:c.338-92C>A
NM_001406762.1:c.338-92C>A
NM_001406763.1:c.375C>A
NM_001406764.1:c.338-92C>A
NM_001406765.1:c.375C>A
NM_001406766.1:c.337+1657C>A
NM_001406767.1:c.337+1657C>A
NM_001406768.1:c.338-92C>A
NM_001406769.1:c.375C>A
NM_001406770.1:c.337+1657C>A
NM_001406771.1:c.375C>A
NM_001406772.1:c.375C>A
NM_001406773.1:c.375C>A
NM_001406774.1:c.338-92C>A
NM_001406775.1:c.337+1657C>A
NM_001406776.1:c.337+1657C>A
NM_001406777.1:c.337+1657C>A
NM_001406778.1:c.337+1657C>A
NM_001406779.1:c.375C>A
NM_001406780.1:c.375C>A
NM_001406781.1:c.375C>A
NM_001406782.1:c.375C>A
NM_001406783.1:c.338-92C>A
NM_001406784.1:c.74-6652C>A
NM_001406785.1:c.375C>A
NM_001406786.1:c.338-92C>A
NM_001406787.1:c.375C>A
NM_001406788.1:c.337+1657C>A
NM_001406789.1:c.337+1657C>A
NM_001406790.1:c.337+1657C>A
NM_001406791.1:c.337+1657C>A
NM_001406792.1:c.74-9720C>A
NM_001406793.1:c.74-9720C>A
NM_001406794.1:c.74-9720C>A
NM_020629.2:c.375C>A
NM_020630.7:c.375C>A
NM_020975.6:c.375C>AMANE SELECT
NP_000314.1:p.Val125=
NP_001393672.1:p.Val125=
NP_001393673.1:p.Val125=
NP_001393688.1:p.Val125=
NP_001393689.1:p.Val125=
NP_001393692.1:p.Val125=
NP_001393694.1:p.Val125=
NP_001393698.1:p.Val125=
NP_001393700.1:p.Val125=
NP_001393701.1:p.Val125=
NP_001393702.1:p.Val125=
NP_001393708.1:p.Val125=
NP_001393709.1:p.Val125=
NP_001393710.1:p.Val125=
NP_001393711.1:p.Val125=
NP_001393714.1:p.Val125=
NP_001393716.1:p.Val125=
NP_065680.1:p.Val125=
NP_065681.1:p.Val125=
NP_065681.1:p.Val125=
NP_066124.1:p.Val125=
NP_066124.1:p.Val125=
LRG_518t1:c.375C>A
LRG_518t2:c.375C>A
LRG_518:g.30311C>A
LRG_518p1:p.Val125=
LRG_518p2:p.Val125=
NC_000010.10:g.43597827C>A
NM_020630.4:c.375C>A
NM_020975.4:c.375C>A
NP_066124.1:p.(=)
p.V125V
p.Val125Val

Links:

dbSNP: rs1800859

NCBI 1000 Genomes Browser:

rs1800859

Molecular consequence:

NM_001406761.1:c.338-92C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001406762.1:c.338-92C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001406764.1:c.338-92C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001406766.1:c.337+1657C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001406767.1:c.337+1657C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001406768.1:c.338-92C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001406770.1:c.337+1657C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001406774.1:c.338-92C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001406775.1:c.337+1657C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001406776.1:c.337+1657C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001406777.1:c.337+1657C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001406778.1:c.337+1657C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001406783.1:c.338-92C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001406784.1:c.74-6652C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001406786.1:c.338-92C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001406788.1:c.337+1657C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001406789.1:c.337+1657C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001406790.1:c.337+1657C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001406791.1:c.337+1657C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001406792.1:c.74-9720C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001406793.1:c.74-9720C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001406794.1:c.74-9720C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_000323.2:c.375C>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001406743.1:c.375C>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001406744.1:c.375C>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001406759.1:c.375C>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001406760.1:c.375C>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001406763.1:c.375C>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001406765.1:c.375C>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001406769.1:c.375C>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001406771.1:c.375C>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001406772.1:c.375C>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001406773.1:c.375C>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001406779.1:c.375C>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001406780.1:c.375C>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001406781.1:c.375C>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001406782.1:c.375C>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001406785.1:c.375C>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001406787.1:c.375C>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_020629.2:c.375C>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_020630.7:c.375C>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_020975.6:c.375C>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000842761	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Benign (Oct 19, 2017)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 10528857, 14627689, 26467025
SCV001472115	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process 2024)	Benign (Nov 7, 2023)	germline	clinical testing	Citation Link,
SCV002497022	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Benign (Apr 1, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000842761

Athena Diagnostics

criteria provided, single submitter

(Athena Diagnostics Criteria)

Benign
(Oct 19, 2017)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

SCV001472115

ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2024)

Benign
(Nov 7, 2023)

germline

clinical testing

Citation Link,

SCV002497022

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Benign
(Apr 1, 2024)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	69	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Specific polymorphisms in the RET proto-oncogene are over-represented in patients with Hirschsprung disease and may represent loci modifying phenotypic expression.

Borrego S, Sáez ME, Ruiz A, Gimm O, López-Alonso M, Antiñolo G, Eng C.

J Med Genet. 1999 Oct;36(10):771-4.

PubMed [citation]

PMID:: 10528857
PMCID:: PMC1734238

Chinese patients with sporadic Hirschsprung's disease are predominantly represented by a single RET haplotype.

Garcia-Barceló MM, Sham MH, Lui VC, Chen BL, Song YQ, Lee WS, Yung SK, Romeo G, Tam PK.

J Med Genet. 2003 Nov;40(11):e122. No abstract available.

PubMed [citation]

PMID:: 14627689
PMCID:: PMC1735300

See all PubMed Citations (3)

Details of each submission

From Athena Diagnostics, SCV000842761.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

#	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 ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001472115.2

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

From CeGaT Center for Human Genetics Tuebingen, SCV002497022.13

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	69	not provided	not provided	clinical testing	not provided

Description

RET: BS1, BS2

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		69	not provided	not provided	not provided

Last Updated: Jun 9, 2024

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