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NM_004153.4(ORC1):c.2530C>T (p.Arg844Trp) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 12, 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:
RCV003245489.2

Allele description [Variation Report for NM_004153.4(ORC1):c.2530C>T (p.Arg844Trp)]

NM_004153.4(ORC1):c.2530C>T (p.Arg844Trp)

Gene:
ORC1:origin recognition complex subunit 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p32.3
Genomic location:
Preferred name:
NM_004153.4(ORC1):c.2530C>T (p.Arg844Trp)
HGVS:
  • NC_000001.11:g.52373237G>A
  • NG_028251.1:g.36235C>T
  • NG_028251.2:g.41266C>T
  • NM_001190818.2:c.2530C>T
  • NM_001190819.2:c.2515C>T
  • NM_004153.4:c.2530C>TMANE SELECT
  • NP_001177747.1:p.Arg844Trp
  • NP_001177748.1:p.Arg839Trp
  • NP_004144.2:p.Arg844Trp
  • NC_000001.10:g.52838909G>A
  • NM_004153.3:c.2530C>T
Protein change:
R839W
Molecular consequence:
  • NM_001190818.2:c.2530C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001190819.2:c.2515C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004153.4:c.2530C>T - 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
SCV003952962Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Apr 12, 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, SCV003952962.2

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

Description

The c.2530C>T (p.R844W) alteration is located in exon 17 (coding exon 16) of the ORC1 gene. This alteration results from a C to T substitution at nucleotide position 2530, causing the arginine (R) at amino acid position 844 to be replaced by a tryptophan (W). 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