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NM_001454.4(FOXJ1):c.1022_1040dup (p.Ile348fs) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 28, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV004588707.1

Allele description [Variation Report for NM_001454.4(FOXJ1):c.1022_1040dup (p.Ile348fs)]

NM_001454.4(FOXJ1):c.1022_1040dup (p.Ile348fs)

Gene:
FOXJ1:forkhead box J1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
17q25.1
Genomic location:
Preferred name:
NM_001454.4(FOXJ1):c.1022_1040dup (p.Ile348fs)
HGVS:
  • NC_000017.11:g.76137585_76137603dup
  • NG_013345.1:g.8703_8721dup
  • NG_137604.1:g.658_676dup
  • NG_137605.1:g.2_3insGAGGTCCACGTCCACGTGTGAGGTCCACGT
  • NM_001454.4:c.1022_1040dupMANE SELECT
  • NP_001445.2:p.Ile348fs
  • NC_000017.10:g.74133666_74133684dup
  • NM_001454.3:c.1022_1040dup
Protein change:
I348fs
Molecular consequence:
  • NM_001454.4:c.1022_1040dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005079076GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Sep 28, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV005079076.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Frameshift variant predicted to result in protein truncation, as the last 74 amino acids are replaced with 32 different amino acids in a gene for which loss-of-function is not an established mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 29, 2024