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NM_020843.4(SCAPER):c.3113G>A (p.Gly1038Glu) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 28, 2023
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:
RCV003344870.2

Allele description [Variation Report for NM_020843.4(SCAPER):c.3113G>A (p.Gly1038Glu)]

NM_020843.4(SCAPER):c.3113G>A (p.Gly1038Glu)

Genes:
LOC126862183:BRD4-independent group 4 enhancer GRCh37_chr15:76726060-76727259 [Gene]
SCAPER:S-phase cyclin A associated protein in the ER [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q24.3
Genomic location:
Preferred name:
NM_020843.4(SCAPER):c.3113G>A (p.Gly1038Glu)
HGVS:
  • NC_000015.10:g.76434276C>T
  • NG_086681.1:g.658C>T
  • NM_001145923.2:c.2375G>A
  • NM_001353009.2:c.3131G>A
  • NM_001353010.2:c.2711G>A
  • NM_001353011.2:c.2729G>A
  • NM_001353012.2:c.2711G>A
  • NM_020843.4:c.3113G>AMANE SELECT
  • NP_001139395.1:p.Gly792Glu
  • NP_001339938.1:p.Gly1044Glu
  • NP_001339939.1:p.Gly904Glu
  • NP_001339940.1:p.Gly910Glu
  • NP_001339941.1:p.Gly904Glu
  • NP_065894.2:p.Gly1038Glu
  • NC_000015.9:g.76726617C>T
  • NM_020843.2:c.3113G>A
  • NR_148227.2:n.3321G>A
Protein change:
G1038E
Molecular consequence:
  • NM_001145923.2:c.2375G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353009.2:c.3131G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353010.2:c.2711G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353011.2:c.2729G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353012.2:c.2711G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020843.4:c.3113G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_148227.2:n.3321G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV004060661Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jun 28, 2023) 		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, SCV004060661.2

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

Description

The c.3113G>A (p.G1038E) alteration is located in exon 25 (coding exon 25) of the SCAPER gene. This alteration results from a G to A substitution at nucleotide position 3113, causing the glycine (G) at amino acid position 1038 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: May 1, 2024