U.S. flag

An official website of the United States government

NM_032436.4(CHAMP1):c.730delinsGC (p.Ser244fs) AND CHAMP1-related syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 4, 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:
RCV001265369.1

Allele description [Variation Report for NM_032436.4(CHAMP1):c.730delinsGC (p.Ser244fs)]

NM_032436.4(CHAMP1):c.730delinsGC (p.Ser244fs)

Gene:
CHAMP1:chromosome alignment maintaining phosphoprotein 1 [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
13q34
Genomic location:
Preferred name:
NM_032436.4(CHAMP1):c.730delinsGC (p.Ser244fs)
HGVS:
  • NC_000013.11:g.114324572delinsGC
  • NG_051829.1:g.15238delinsGC
  • NM_001164144.3:c.730delinsGC
  • NM_001164145.3:c.730delinsGC
  • NM_032436.4:c.730delinsGCMANE SELECT
  • NP_001157616.1:p.Ser244fs
  • NP_001157617.1:p.Ser244fs
  • NP_115812.1:p.Ser244fs
  • NC_000013.10:g.115090047delinsGC
  • NM_001164144.1:c.730delTinsGC
Protein change:
S244fs
Links:
dbSNP: rs1555379525
NCBI 1000 Genomes Browser:
rs1555379525
Molecular consequence:
  • NM_001164144.3:c.730delinsGC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001164145.3:c.730delinsGC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_032436.4:c.730delinsGC - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
CHAMP1-related syndrome
Identifiers:

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001443494GenomeConnect - Simons Searchlight
no assertion criteria provided
Pathogenic
(Mar 4, 2019) 		de novoprovider interpretation

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedprovider interpretation

Details of each submission

From GenomeConnect - Simons Searchlight, SCV001443494.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedprovider interpretationnot provided

Description

Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2019-03-04 and interpreted as Pathogenic. Variant was initially reported on 2017-12-01 by GTR ID of laboratory name 26957. The reporting laboratory might also submit to ClinVar.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022