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NM_001289104.2(PRKCSH):c.939GGA[11] (p.Glu325dup) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Dec 19, 2022
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV003151345.2

Allele description [Variation Report for NM_001289104.2(PRKCSH):c.939GGA[11] (p.Glu325dup)]

NM_001289104.2(PRKCSH):c.939GGA[11] (p.Glu325dup)

Gene:
PRKCSH:PRKCSH beta subunit of glucosidase II [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
19p13.2
Genomic location:
Preferred name:
NM_001289104.2(PRKCSH):c.939GGA[11] (p.Glu325dup)
HGVS:
  • NC_000019.10:g.11447528GGA[11]
  • NG_009300.1:g.17075GGA[11]
  • NM_001001329.3:c.939GGA[11]
  • NM_001289102.2:c.939GGA[11]
  • NM_001289103.2:c.939GGA[11]
  • NM_001289104.2:c.939GGA[11]MANE SELECT
  • NM_001379608.1:c.939GGA[11]
  • NM_001379609.1:c.939GGA[11]
  • NM_002743.3:c.939GGA[11]
  • NP_001001329.1:p.Glu325dup
  • NP_001276031.1:p.Glu325dup
  • NP_001276032.1:p.Glu325dup
  • NP_001276033.1:p.Glu325dup
  • NP_001366537.1:p.Glu325dup
  • NP_001366538.1:p.Glu325dup
  • NP_002734.2:p.Glu325dup
  • NC_000019.9:g.11558340_11558341insGAG
  • NC_000019.9:g.11558343GGA[11]
  • NM_002743.3:c.966_968dup
Links:
dbSNP: rs3217229
NCBI 1000 Genomes Browser:
rs3217229
Molecular consequence:
  • NM_001001329.3:c.939GGA[11] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001289102.2:c.939GGA[11] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001289103.2:c.939GGA[11] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001289104.2:c.939GGA[11] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001379608.1:c.939GGA[11] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001379609.1:c.939GGA[11] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_002743.3:c.939GGA[11] - inframe_insertion - [Sequence Ontology: SO:0001821]

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
SCV003839923Genetic Services Laboratory, University of Chicago
no assertion criteria provided
Likely benign
(Dec 19, 2022) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Genetic Services Laboratory, University of Chicago, SCV003839923.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024