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NM_032436.4(CHAMP1):c.1244T>A (p.Val415Glu) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Oct 27, 2021
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:
RCV002783078.2

Allele description [Variation Report for NM_032436.4(CHAMP1):c.1244T>A (p.Val415Glu)]

NM_032436.4(CHAMP1):c.1244T>A (p.Val415Glu)

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.1244T>A (p.Val415Glu)
HGVS:
  • NC_000013.11:g.114325086T>A
  • NG_051829.1:g.15752T>A
  • NM_001164144.3:c.1244T>A
  • NM_001164145.3:c.1244T>A
  • NM_032436.4:c.1244T>AMANE SELECT
  • NP_001157616.1:p.Val415Glu
  • NP_001157617.1:p.Val415Glu
  • NP_115812.1:p.Val415Glu
  • NC_000013.10:g.115090561T>A
  • NM_032436.2:c.1244T>A
Protein change:
V415E
Molecular consequence:
  • NM_001164144.3:c.1244T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001164145.3:c.1244T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_032436.4:c.1244T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003586707Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Oct 27, 2021) 		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 Ambry Genetics, SCV003586707.2

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: May 1, 2024