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NM_000298.6(PKLR):c.1076G>C (p.Arg359Pro) AND Pyruvate kinase deficiency of red cells

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Oct 30, 2023
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:
RCV003388232.1

Allele description [Variation Report for NM_000298.6(PKLR):c.1076G>C (p.Arg359Pro)]

NM_000298.6(PKLR):c.1076G>C (p.Arg359Pro)

Gene:
PKLR:pyruvate kinase L/R [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q22
Genomic location:
Preferred name:
NM_000298.6(PKLR):c.1076G>C (p.Arg359Pro)
HGVS:
  • NC_000001.11:g.155294275C>G
  • NG_011677.1:g.12160G>C
  • NG_092320.1:g.269C>G
  • NM_000298.6:c.1076G>CMANE SELECT
  • NM_181871.4:c.983G>C
  • NP_000289.1:p.Arg359Pro
  • NP_870986.1:p.Arg328Pro
  • LRG_1136t1:c.1076G>C
  • LRG_1136:g.12160G>C
  • LRG_1136p1:p.Arg359Pro
  • NC_000001.10:g.155264066C>G
Protein change:
R328P
Molecular consequence:
  • NM_000298.6:c.1076G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181871.4:c.983G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Pyruvate kinase deficiency of red cells (CNSHA2)
Synonyms:
PYRUVATE KINASE DEFICIENCY OF ERYTHROCYTE; Pyruvate kinase deficiency; Pyruvate kinase deficiency of erythrocytes; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009950; MedGen: C0340968; Orphanet: 766; OMIM: 266200

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004099311Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
no assertion criteria provided
Likely pathogenic
(Oct 30, 2023) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Zotz-Klimas Genetics Lab, MVZ Zotz Klimas, SCV004099311.1

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

Last Updated: Oct 20, 2024