NM_002012.4(FHIT):c.103+32489_103+54184del AND Aganglionic megacolon

Clinical significance:Likely pathogenic (Last evaluated: Jan 1, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001290049.1

Allele description [Variation Report for NM_002012.4(FHIT):c.103+32489_103+54184del]

NM_002012.4(FHIT):c.103+32489_103+54184del

Genes:
FHIT:fragile histidine triad diadenosine triphosphatase [Gene - OMIM - HGNC]
LOC107325936:origin of replication at fragile site FRA3B [Gene]
Variant type:
Deletion
Cytogenetic location:
3p14.2
Genomic location:
Preferred name:
NM_002012.4(FHIT):c.103+32489_103+54184del
HGVS:
  • NC_000003.12:g.60482676_60504371del
  • NG_007551.2:g.752089_773784del
  • NG_046767.1:g.7092_28787del
  • NM_001166243.3:c.103+32489_103+54184del
  • NM_001320899.2:c.103+32489_103+54184del
  • NM_001320900.2:c.103+32489_103+54184del
  • NM_001354589.2:c.103+32489_103+54184del
  • NM_001354590.2:c.103+32489_103+54184del
  • NM_002012.4:c.103+32489_103+54184delMANE SELECT
  • NC_000003.11:g.60468409_60490104del
Molecular consequence:
  • NM_001166243.3:c.103+32489_103+54184del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001320899.2:c.103+32489_103+54184del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001320900.2:c.103+32489_103+54184del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354589.2:c.103+32489_103+54184del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354590.2:c.103+32489_103+54184del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_002012.4:c.103+32489_103+54184del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Aganglionic megacolon
Synonyms:
Hirschsprung megacolon; Megacolon
Identifiers:
MONDO: MONDO:0001273; MedGen: C0025160; Human Phenotype Ontology: HP:0002251

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001426241Clinical Genetics, Erasmus University Medical Centercriteria provided, single submitter
Likely pathogenic
(Jan 1, 2020)
unknownresearch

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot provided1not providednot providednot providedresearch

Citations

PubMed

American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants.

Kearney HM, Thorland EC, Brown KK, Quintero-Rivera F, South ST; Working Group of the American College of Medical Genetics Laboratory Quality Assurance Committee..

Genet Med. 2011 Jul;13(7):680-5. doi: 10.1097/GIM.0b013e3182217a3a.

PubMed [citation]
PMID:
21681106

Details of each submission

From Clinical Genetics, Erasmus University Medical Center, SCV001426241.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot provided1not provided

Last Updated: Oct 7, 2021

Support Center