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NM_031229.4(RBCK1):c.28G>C (p.Glu10Gln) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 22, 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:
RCV002551406.1

Allele description [Variation Report for NM_031229.4(RBCK1):c.28G>C (p.Glu10Gln)]

NM_031229.4(RBCK1):c.28G>C (p.Glu10Gln)

Gene:
RBCK1:RANBP2-type and C3HC4-type zinc finger containing 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
20p13
Genomic location:
Preferred name:
NM_031229.4(RBCK1):c.28G>C (p.Glu10Gln)
HGVS:
  • NC_000020.11:g.409886G>C
  • NG_033233.1:g.6822G>C
  • NM_001323956.2:c.-322G>C
  • NM_001323958.2:c.-183+1107G>C
  • NM_001323960.2:c.28G>C
  • NM_006462.6:c.41+1107G>C
  • NM_031229.2:c.28G>C
  • NM_031229.4:c.28G>CMANE SELECT
  • NP_001310889.1:p.Glu10Gln
  • NP_112506.2:p.Glu10Gln
  • LRG_728t1:c.28G>C
  • LRG_728:g.6822G>C
  • LRG_728p1:p.Glu10Gln
  • NC_000020.10:g.390530G>C
  • NM_031229.3:c.28G>C
  • NR_136659.2:n.487G>C
Protein change:
E10Q
Links:
dbSNP: rs376438608
NCBI 1000 Genomes Browser:
rs376438608
Molecular consequence:
  • NM_001323956.2:c.-322G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001323958.2:c.-183+1107G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_006462.6:c.41+1107G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001323960.2:c.28G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_031229.4:c.28G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_136659.2:n.487G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

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
SCV003553928Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Uncertain significance
(Oct 22, 2021) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV003553928.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The c.28G>C (p.E10Q) alteration is located in exon 2 (coding exon 2) of the RBCK1 gene. This alteration results from a G to C substitution at nucleotide position 28, causing the glutamic acid (E) at amino acid position 10 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Feb 7, 2023