NM_000298.6(PKLR):c.1516G>A (p.Val506Ile) AND Pyruvate kinase deficiency of red cells

Clinical significance:Likely benign (Last evaluated: Apr 27, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001095923.1

Allele description [Variation Report for NM_000298.6(PKLR):c.1516G>A (p.Val506Ile)]

NM_000298.6(PKLR):c.1516G>A (p.Val506Ile)

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.1516G>A (p.Val506Ile)
HGVS:
  • NC_000001.11:g.155291858C>T
  • NG_011677.1:g.14577G>A
  • NM_000298.6:c.1516G>AMANE SELECT
  • NM_181871.4:c.1423G>A
  • NP_000289.1:p.Val506Ile
  • NP_870986.1:p.Val475Ile
  • LRG_1136t1:c.1516G>A
  • LRG_1136:g.14577G>A
  • LRG_1136p1:p.Val506Ile
  • NC_000001.10:g.155261649C>T
  • NM_000298.5:c.1516G>A
  • P30613:p.Val506Ile
Protein change:
V475I
Links:
UniProtKB: P30613#VAR_018848; dbSNP: rs8177988
NCBI 1000 Genomes Browser:
rs8177988
Molecular consequence:
  • NM_000298.6:c.1516G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181871.4:c.1423G>A - 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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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001252102Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Likely benign
(Apr 27, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV001252102.1

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

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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

Last Updated: Jun 14, 2021

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