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

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Aug 7, 2021)
Last evaluated:
Jan 13, 2021
Accession:
VCV000620623.2
Variation ID:
620623
Description:
single nucleotide variant
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NM_016734.3(PAX5):c.701T>C (p.Leu234Pro)

Allele ID
612003
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9p13.2
Genomic location
9: 36966628 (GRCh38) GRCh38 UCSC
9: 36966625 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.11:g.36966625A>G
NC_000009.12:g.36966628A>G
NM_016734.3:c.701T>C MANE Select NP_057953.1:p.Leu234Pro missense
... more HGVS
Protein change
L234P, L168P, L191P, L126P
Other names
-
Canonical SPDI
NC_000009.12:36966627:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00003
The Genome Aggregation Database (gnomAD) 0.00003
The Genome Aggregation Database (gnomAD), exomes 0.00001
Exome Aggregation Consortium (ExAC) 0.00002
Links
dbSNP: rs753068558
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jan 13, 2021 RCV000761127.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
PAX5 - - GRCh38
GRCh37
77 151

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jan 13, 2021)
criteria provided, single submitter
Method: clinical testing
Leukemia, acute lymphoblastic, susceptibility to, 3
Allele origin: germline
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital
Accession: SCV000891043.2
Submitted: (Aug 07, 2021)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs753068558...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Aug 11, 2021