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NM_014059.3(RGCC):c.163G>A (p.Glu55Lys) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 29, 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:
RCV004658365.1

Allele description [Variation Report for NM_014059.3(RGCC):c.163G>A (p.Glu55Lys)]

NM_014059.3(RGCC):c.163G>A (p.Glu55Lys)

Gene:
RGCC:regulator of cell cycle [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q14.11
Genomic location:
Preferred name:
NM_014059.3(RGCC):c.163G>A (p.Glu55Lys)
HGVS:
  • NC_000013.11:g.41458398G>A
  • NG_127680.1:g.763G>A
  • NG_127680.2:g.1176G>A
  • NG_189198.1:g.36G>A
  • NM_014059.3:c.163G>AMANE SELECT
  • NP_054778.2:p.Glu55Lys
  • NC_000013.10:g.42032534G>A
  • NM_014059.2:c.163G>A
Protein change:
E55K
Molecular consequence:
  • NM_014059.3:c.163G>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
SCV005162859Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 29, 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 Ambry Genetics, SCV005162859.1

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

Description

The c.163G>A (p.E55K) alteration is located in exon 2 (coding exon 2) of the RGCC gene. This alteration results from a G to A substitution at nucleotide position 163, causing the glutamic acid (E) at amino acid position 55 to be replaced by a lysine (K). 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: Aug 11, 2024