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NM_020975.6(RET):c.785T>C (p.Val262Ala) AND Aganglionic megacolon

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 1, 2014
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:
RCV000148775.5

Allele description [Variation Report for NM_020975.6(RET):c.785T>C (p.Val262Ala)]

NM_020975.6(RET):c.785T>C (p.Val262Ala)

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.785T>C (p.Val262Ala)
HGVS:
  • NC_000010.11:g.43105111T>C
  • NG_007489.1:g.33043T>C
  • NM_000323.2:c.785T>C
  • NM_001355216.2:c.23T>C
  • NM_001406743.1:c.785T>C
  • NM_001406744.1:c.785T>C
  • NM_001406759.1:c.785T>C
  • NM_001406760.1:c.785T>C
  • NM_001406761.1:c.656T>C
  • NM_001406762.1:c.656T>C
  • NM_001406763.1:c.785T>C
  • NM_001406764.1:c.656T>C
  • NM_001406765.1:c.785T>C
  • NM_001406766.1:c.497T>C
  • NM_001406767.1:c.497T>C
  • NM_001406768.1:c.656T>C
  • NM_001406769.1:c.785T>C
  • NM_001406770.1:c.497T>C
  • NM_001406772.1:c.785T>C
  • NM_001406774.1:c.656T>C
  • NM_020629.2:c.785T>C
  • NM_020630.7:c.785T>C
  • NM_020975.6:c.785T>CMANE SELECT
  • NP_000314.1:p.Val262Ala
  • NP_001342145.1:p.Val8Ala
  • NP_001342145.1:p.Val8Ala
  • NP_001393672.1:p.Val262Ala
  • NP_001393673.1:p.Val262Ala
  • NP_001393688.1:p.Val262Ala
  • NP_001393689.1:p.Val262Ala
  • NP_001393690.1:p.Val219Ala
  • NP_001393691.1:p.Val219Ala
  • NP_001393692.1:p.Val262Ala
  • NP_001393693.1:p.Val219Ala
  • NP_001393694.1:p.Val262Ala
  • NP_001393695.1:p.Val166Ala
  • NP_001393696.1:p.Val166Ala
  • NP_001393697.1:p.Val219Ala
  • NP_001393698.1:p.Val262Ala
  • NP_001393699.1:p.Val166Ala
  • NP_001393701.1:p.Val262Ala
  • NP_001393703.1:p.Val219Ala
  • NP_065680.1:p.Val262Ala
  • NP_065681.1:p.Val262Ala
  • NP_065681.1:p.Val262Ala
  • NP_065681.1:p.Val262Ala
  • NP_066124.1:p.Val262Ala
  • NP_066124.1:p.Val262Ala
  • LRG_518t1:c.785T>C
  • LRG_518t2:c.785T>C
  • LRG_518:g.33043T>C
  • LRG_518p1:p.Val262Ala
  • LRG_518p2:p.Val262Ala
  • NC_000010.10:g.43600559T>C
  • NM_001355216.1:c.23T>C
  • NM_020630.4:c.785T>C
  • NM_020630.6:c.785T>C
  • NM_020975.4:c.785T>C
  • NM_020975.5:c.785T>C
Protein change:
V166A
Links:
dbSNP: rs139790943
NCBI 1000 Genomes Browser:
rs139790943
Molecular consequence:
  • NM_000323.2:c.785T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001355216.2:c.23T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406743.1:c.785T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406744.1:c.785T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406759.1:c.785T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406760.1:c.785T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406761.1:c.656T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406762.1:c.656T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406763.1:c.785T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406764.1:c.656T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406765.1:c.785T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406766.1:c.497T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406767.1:c.497T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406768.1:c.656T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406769.1:c.785T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406770.1:c.497T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406772.1:c.785T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406774.1:c.656T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020629.2:c.785T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020630.7:c.785T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020975.6:c.785T>C - missense variant - [Sequence Ontology: SO:0001583]

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000190512CSER _CC_NCGL, University of Washington - ESP 6500 variant annotation
no assertion criteria provided
Uncertain significance
(Jun 1, 2014) 		germlineresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedresearch

Details of each submission

From CSER _CC_NCGL, University of Washington - ESP 6500 variant annotation, SCV000190512.1

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

Last Updated: May 26, 2024