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NM_138964.4(PROKR1):c.1019T>A (p.Leu340Gln) AND Aganglionic megacolon

Germline classification:
Likely pathogenic (1 submission)
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:
RCV000736048.1

Allele description [Variation Report for NM_138964.4(PROKR1):c.1019T>A (p.Leu340Gln)]

NM_138964.4(PROKR1):c.1019T>A (p.Leu340Gln)

Gene:
PROKR1:prokineticin receptor 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p13.3
Genomic location:
Preferred name:
NM_138964.4(PROKR1):c.1019T>A (p.Leu340Gln)
HGVS:
  • NC_000002.12:g.68655413T>A
  • NG_051312.1:g.16826T>A
  • NM_138964.2:c.1019T>A
  • NM_138964.4:c.1019T>AMANE SELECT
  • NP_620414.1:p.Leu340Gln
  • NC_000002.11:g.68882545T>A
Protein change:
L340Q
Links:
dbSNP: rs144018404
NCBI 1000 Genomes Browser:
rs144018404
Molecular consequence:
  • NM_138964.4:c.1019T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Aganglionic megacolon (HSCR)
Synonyms:
Hirschsprung disease; Hirschsprung's 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
SCV000845748Human Genomics Unit, Institute for molecular medicine Finland (FIMM)
no assertion criteria provided
Likely pathogenicunknownresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot providednot providednot providedresearch

Details of each submission

From Human Genomics Unit, Institute for molecular medicine Finland (FIMM), SCV000845748.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: May 16, 2025