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

Germline classification:
Benign (1 submission)
Last evaluated:
Jan 1, 2013
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:
RCV000736271.10

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]

Condition(s)

Name:
Aganglionic megacolon (HSCR)
Synonyms:
Hirschsprung's disease; Hirschsprung disease
Identifiers:
MONDO: MONDO:0018309; MeSH: D006627; MedGen: C0019569; Orphanet: 388; OMIM: PS142623; Human Phenotype Ontology: HP:0002251

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000864568Human Genomics Unit, Institute for molecular medicine Finland (FIMM)
no assertion criteria provided
Benign
(Jan 1, 2013) 		unknownresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes2not providednot providednot providednot providedresearch

Details of each submission

From Human Genomics Unit, Institute for molecular medicine Finland (FIMM), SCV000864568.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided2not providednot providednot provided

Last Updated: May 26, 2024