NM_016734.3(PAX5):c.701T>C (p.Leu234Pro) AND Leukemia, acute lymphoblastic, susceptibility to, 3

Clinical significance:Uncertain significance (Last evaluated: Jan 13, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000761127.2

Allele description [Variation Report for NM_016734.3(PAX5):c.701T>C (p.Leu234Pro)]

NM_016734.3(PAX5):c.701T>C (p.Leu234Pro)

Gene:
PAX5:paired box 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9p13.2
Genomic location:
Preferred name:
NM_016734.3(PAX5):c.701T>C (p.Leu234Pro)
HGVS:
  • NC_000009.12:g.36966628A>G
  • NG_033894.1:g.72852T>C
  • NM_001280547.2:c.701T>C
  • NM_001280548.2:c.701T>C
  • NM_001280549.2:c.701T>C
  • NM_001280550.2:c.701T>C
  • NM_001280551.2:c.377T>C
  • NM_001280552.2:c.701T>C
  • NM_001280553.2:c.572T>C
  • NM_001280554.2:c.572T>C
  • NM_001280555.2:c.503T>C
  • NM_001280556.2:c.377T>C
  • NM_016734.3:c.701T>CMANE SELECT
  • NP_001267476.1:p.Leu234Pro
  • NP_001267477.1:p.Leu234Pro
  • NP_001267478.1:p.Leu234Pro
  • NP_001267479.1:p.Leu234Pro
  • NP_001267480.1:p.Leu126Pro
  • NP_001267481.1:p.Leu234Pro
  • NP_001267482.1:p.Leu191Pro
  • NP_001267483.1:p.Leu191Pro
  • NP_001267484.1:p.Leu168Pro
  • NP_001267485.1:p.Leu126Pro
  • NP_057953.1:p.Leu234Pro
  • LRG_1384t1:c.701T>C
  • LRG_1384:g.72852T>C
  • LRG_1384p1:p.Leu234Pro
  • NC_000009.11:g.36966625A>G
  • NM_016734.2:c.701T>C
  • NR_103999.2:n.938T>C
  • NR_104000.2:n.938T>C
Protein change:
L126P
Links:
dbSNP: rs753068558
NCBI 1000 Genomes Browser:
rs753068558
Molecular consequence:
  • NM_001280547.2:c.701T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001280548.2:c.701T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001280549.2:c.701T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001280550.2:c.701T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001280551.2:c.377T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001280552.2:c.701T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001280553.2:c.572T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001280554.2:c.572T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001280555.2:c.503T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001280556.2:c.377T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_016734.3:c.701T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_103999.2:n.938T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_104000.2:n.938T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Leukemia, acute lymphoblastic, susceptibility to, 3 (ALL3)
Identifiers:
MONDO: MONDO:0014241; MedGen: C3809874; OMIM: 615545

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000891043St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospitalcriteria provided, single submitter
Uncertain significance
(Jan 13, 2021)
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 St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital, SCV000891043.2

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

Last Updated: Aug 11, 2021

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