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NM_025215.6(PUS1):c.684G>A (p.Thr228=) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Oct 13, 2017
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:
RCV000601110.1

Allele description [Variation Report for NM_025215.6(PUS1):c.684G>A (p.Thr228=)]

NM_025215.6(PUS1):c.684G>A (p.Thr228=)

Gene:
PUS1:pseudouridine synthase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q24.33
Genomic location:
Preferred name:
NM_025215.6(PUS1):c.684G>A (p.Thr228=)
HGVS:
  • NC_000012.12:g.131941431G>A
  • NG_013039.1:g.17232G>A
  • NM_001002019.3:c.600G>A
  • NM_001002020.3:c.600G>A
  • NM_025215.6:c.684G>AMANE SELECT
  • NP_001002019.1:p.Thr200=
  • NP_001002020.1:p.Thr200=
  • NP_079491.2:p.Thr228=
  • NC_000012.11:g.132425976G>A
  • NM_025215.5:c.684G>A
Links:
dbSNP: rs550406574
NCBI 1000 Genomes Browser:
rs550406574
Molecular consequence:
  • NM_001002019.3:c.600G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001002020.3:c.600G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_025215.6:c.684G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000723190GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely benign
(Oct 13, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000723190.1

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

Last Updated: Oct 13, 2024