NM_032436.4(CHAMP1):c.730delinsGC (p.Ser244fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 20, 2017
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:: RCV000598837.1

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)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000710165	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Nov 20, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000710165

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Nov 20, 2017)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000710165.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The c.730delTinsGC variant in the CHAMP1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.730delTinsGC variant causes a frameshift starting with codon Serine 244, changes this amino acid to an Alanine residue, and creates a premature Stop codon at position 34 of the new reading frame, denoted p.Ser244AlafsX34. This variant is predicted to cause loss of normal protein function through protein truncation. The c.730delTinsGC variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.730delTinsGC as a pathogenic variant.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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