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NM_032930.3(CFAP300):c.693_694insGA (p.Tyr232fs) AND Heterotaxy

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 24, 2021
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:
RCV001732149.1

Allele description [Variation Report for NM_032930.3(CFAP300):c.693_694insGA (p.Tyr232fs)]

NM_032930.3(CFAP300):c.693_694insGA (p.Tyr232fs)

Gene:
CFAP300:cilia and flagella associated protein 300 [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
11q22.1
Genomic location:
Preferred name:
NM_032930.3(CFAP300):c.693_694insGA (p.Tyr232fs)
HGVS:
  • NC_000011.10:g.102083088_102083089insGA
  • NM_001363505.2:c.621_622insGA
  • NM_032930.3:c.693_694insGAMANE SELECT
  • NP_001350434.1:p.Tyr208fs
  • NP_116319.2:p.Tyr232fs
  • NC_000011.9:g.101953819_101953820insGA
Protein change:
Y208fs
Links:
dbSNP: rs2135055284
NCBI 1000 Genomes Browser:
rs2135055284
Molecular consequence:
  • NM_001363505.2:c.621_622insGA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_032930.3:c.693_694insGA - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Heterotaxy
Synonyms:
Situs ambiguus; Laterality sequence
Identifiers:
MedGen: C0266642; Human Phenotype Ontology: HP:0030853

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001572806Pediatric Genetics Clinic, Sheba Medical Center
no assertion criteria provided
Pathogenic
(Apr 24, 2021) 		inheritedresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyes11not providednot providednot providedresearch

Details of each submission

From Pediatric Genetics Clinic, Sheba Medical Center, SCV001572806.1

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

Last Updated: Dec 24, 2023