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NM_001386298.1(CIC):c.7506dup (p.Pro2503fs) AND NK-cell enteropathy

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jul 31, 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:
RCV000791311.1

Allele description [Variation Report for NM_001386298.1(CIC):c.7506dup (p.Pro2503fs)]

NM_001386298.1(CIC):c.7506dup (p.Pro2503fs)

Gene:
CIC:capicua transcriptional repressor [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
19q13.2
Genomic location:
Preferred name:
NM_001386298.1(CIC):c.7506dup (p.Pro2503fs)
HGVS:
  • NC_000019.10:g.42295143dup
  • NG_042060.1:g.31607dup
  • NM_001304815.2:c.7506dup
  • NM_001379480.1:c.7503dup
  • NM_001379482.1:c.7503dup
  • NM_001379484.1:c.4773dup
  • NM_001379485.1:c.4770dup
  • NM_001386298.1:c.7506dupMANE SELECT
  • NM_015125.5:c.4779dup
  • NP_001291744.1:p.Pro2503fs
  • NP_001291744.1:p.Pro2503fs
  • NP_001366409.1:p.Pro2502fs
  • NP_001366411.1:p.Pro2502fs
  • NP_001366413.1:p.Pro1592fs
  • NP_001366414.1:p.Pro1591fs
  • NP_001373227.1:p.Pro2503fs
  • NP_055940.3:p.Pro1594fs
  • LRG_999t2:c.7506dup
  • LRG_999:g.31607dup
  • LRG_999p2:p.Pro2503fs
  • NC_000019.10:g.42295142_42295143insG
  • NC_000019.9:g.42799295dup
  • NM_001304815.1:c.7506dup
Protein change:
P1591fs
Links:
dbSNP: rs1422380205
NCBI 1000 Genomes Browser:
rs1422380205
Molecular consequence:
  • NM_001304815.2:c.7506dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001379480.1:c.7503dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001379482.1:c.7503dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001379484.1:c.4773dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001379485.1:c.4770dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001386298.1:c.7506dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_015125.5:c.4779dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
NK-cell enteropathy
Synonyms:
Natural killer cell enteropathy
Identifiers:
MONDO: MONDO:0016996; MedGen: C4509932

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000930600Xiao lab, Department of Pathology, Memorial Sloan Kettering Cancer Center
no assertion criteria provided
Likely pathogenic
(Jul 31, 2019) 		somaticclinical testing

Help

Summary from all submissions

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

Details of each submission

From Xiao lab, Department of Pathology, Memorial Sloan Kettering Cancer Center, SCV000930600.1

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

Last Updated: May 28, 2022