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NM_032436.4(CHAMP1):c.815G>A (p.Arg272Gln) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Feb 21, 2024
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:
RCV003994846.1

Allele description [Variation Report for NM_032436.4(CHAMP1):c.815G>A (p.Arg272Gln)]

NM_032436.4(CHAMP1):c.815G>A (p.Arg272Gln)

Gene:
CHAMP1:chromosome alignment maintaining phosphoprotein 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q34
Genomic location:
Preferred name:
NM_032436.4(CHAMP1):c.815G>A (p.Arg272Gln)
HGVS:
  • NC_000013.11:g.114324657G>A
  • NG_051829.1:g.15323G>A
  • NM_001164144.3:c.815G>A
  • NM_001164145.3:c.815G>A
  • NM_032436.4:c.815G>AMANE SELECT
  • NP_001157616.1:p.Arg272Gln
  • NP_001157617.1:p.Arg272Gln
  • NP_115812.1:p.Arg272Gln
  • NC_000013.10:g.115090132G>A
Protein change:
R272Q
Molecular consequence:
  • NM_001164144.3:c.815G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001164145.3:c.815G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_032436.4:c.815G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004813298Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Likely benign
(Feb 21, 2024) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV004813298.1

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

Description

Variant summary: CHAMP1 c.815G>A (p.Arg272Gln) results in a conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 6.2e-06 in 1613764 control chromosomes (i.e. in 10 carriers) in the gnomAD database (v4.0 dataset). The occurrence in several carriers suggests that this variant is likely not associated with a high penetrance, severe, early onset disease phenotype in heterozygous state. To our knowledge, no occurrence of c.815G>A in individuals affected with Intellectual Disability, Autosomal Dominant 40 and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have cited clinical-significance assessments for this variant to ClinVar. Based on the evidence outlined above, the variant was classified as likely benign.

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

Last Updated: Apr 20, 2024