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NM_001010848.4(NRG3):c.1770A>G (p.Pro590=) AND Aganglionic megacolon

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 16, 2019
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:
RCV000984712.2

Allele description [Variation Report for NM_001010848.4(NRG3):c.1770A>G (p.Pro590=)]

NM_001010848.4(NRG3):c.1770A>G (p.Pro590=)

Gene:
NRG3:neuregulin 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q23.1
Genomic location:
Preferred name:
NM_001010848.4(NRG3):c.1770A>G (p.Pro590=)
HGVS:
  • NC_000010.11:g.82985284A>G
  • NG_013373.1:g.1114971A>G
  • NM_001010848.4:c.1770A>GMANE SELECT
  • NM_001165972.1:c.1767A>G
  • NM_001165973.2:c.1179A>G
  • NM_001370081.1:c.1770A>G
  • NM_001370082.1:c.1203A>G
  • NM_001370084.1:c.1842A>G
  • NP_001010848.2:p.Pro590=
  • NP_001159444.1:p.Pro589=
  • NP_001159445.1:p.Pro393=
  • NP_001357010.1:p.Pro590=
  • NP_001357011.1:p.Pro401=
  • NP_001357013.1:p.Pro614=
  • NC_000010.10:g.84745040A>G
  • NM_001010848.3:c.1770A>G
  • NR_163251.1:n.2118A>G
  • NR_163252.1:n.1356A>G
  • NR_163253.1:n.1845A>G
Links:
dbSNP: rs17101196
NCBI 1000 Genomes Browser:
rs17101196
Molecular consequence:
  • NR_163251.1:n.2118A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_163252.1:n.1356A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_163253.1:n.1845A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001010848.4:c.1770A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001165972.1:c.1767A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001165973.2:c.1179A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001370081.1:c.1770A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001370082.1:c.1203A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001370084.1:c.1842A>G - 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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000994829Clinical Genetics, Erasmus University Medical Center
no assertion criteria provided
Uncertain significance
(May 16, 2019) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Clinical Genetics, Erasmus University Medical Center, SCV000994829.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 24, 2023