NM_000298.6(PKLR):c.224T>C (p.Leu75Pro) AND Pyruvate kinase deficiency of red cells

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Oct 1, 2021
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:: RCV001729977.1

Allele description [Variation Report for NM_000298.6(PKLR):c.224T>C (p.Leu75Pro)]

NM_000298.6(PKLR):c.224T>C (p.Leu75Pro)

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.224T>C (p.Leu75Pro)

HGVS:

NC_000001.11:g.155300157A>G
NG_011677.1:g.6278T>C
NM_000298.6:c.224T>CMANE SELECT
NM_181871.4:c.131T>C
NP_000289.1:p.Leu75Pro
NP_870986.1:p.Leu44Pro
LRG_1136t1:c.224T>C
LRG_1136:g.6278T>C
LRG_1136p1:p.Leu75Pro
NC_000001.10:g.155269948A>G

Protein change:

L44P

Links:

dbSNP: rs2148218886

NCBI 1000 Genomes Browser:

rs2148218886

Molecular consequence:

NM_000298.6:c.224T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_181871.4:c.131T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Pyruvate kinase deficiency of red cells
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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Lactiplantibacillus plantarum strain DmCS_001 contig78, whole genome shotgun seq...
Lactiplantibacillus plantarum strain DmCS_001 contig78, whole genome shotgun sequence
gi|727100049|ref|NZ_JOJT01000083.1| WGS:NZ_JOJT01|contig78

Nucleotide
Lactobacillus plantarum strain B08_1449_02 16S ribosomal RNA gene, partial seque...
Lactobacillus plantarum strain B08_1449_02 16S ribosomal RNA gene, partial sequence
gi|829582551|gb|KP340449.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001976673	Laboratory of Medical Genetics, National & Kapodistrian University of Athens	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Oct 1, 2021)	unknown	clinical testing	PubMed (2) [See all records that cite these PMIDs] 34008892, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001976673

Laboratory of Medical Genetics, National & Kapodistrian University of Athens

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Oct 1, 2021)

unknown

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Phenotype-driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders.

Marinakis NM, Svingou M, Veltra D, Kekou K, Sofocleous C, Tilemis FN, Kosma K, Tsoutsou E, Fryssira H, Traeger-Synodinos J.

Am J Med Genet A. 2021 Aug;185(8):2561-2571. doi: 10.1002/ajmg.a.62338. Epub 2021 May 19.

PubMed [citation]

PMID:: 34008892

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Laboratory of Medical Genetics, National & Kapodistrian University of Athens, SCV001976673.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

PM1, PM2, PP2, PP3

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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