NM_000298.6(PKLR):c.1511G>T (p.Arg504Leu) AND Pyruvate kinase deficiency of red cells

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jan 19, 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:: RCV003140500.1

Allele description [Variation Report for NM_000298.6(PKLR):c.1511G>T (p.Arg504Leu)]

NM_000298.6(PKLR):c.1511G>T (p.Arg504Leu)

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.1511G>T (p.Arg504Leu)

HGVS:

NC_000001.11:g.155291863C>A
NG_011677.1:g.14572G>T
NM_000298.6:c.1511G>TMANE SELECT
NM_181871.4:c.1418G>T
NP_000289.1:p.Arg504Leu
NP_870986.1:p.Arg473Leu
LRG_1136t1:c.1511G>T
LRG_1136:g.14572G>T
LRG_1136p1:p.Arg504Leu
NC_000001.10:g.155261654C>A

Protein change:

R473L

Molecular consequence:

NM_000298.6:c.1511G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_181871.4:c.1418G>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003807259	Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jan 19, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003807259

Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jan 19, 2023)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	1	not provided	clinical testing

Citations

PubMed

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 Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein, SCV003807259.1

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

Description

ACMG classification criteria: PM2 moderated, PM3 moderated, PM5 moderated, PP3 supporting

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

Last Updated: Mar 11, 2023

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