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NM_016734.3(PAX5):c.1013-6A>G AND Leukemia, acute lymphoblastic, susceptibility to, 3

Germline classification:
Likely benign (1 submission)
Last evaluated:
May 28, 2019
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:
RCV000988185.1

Allele description [Variation Report for NM_016734.3(PAX5):c.1013-6A>G]

NM_016734.3(PAX5):c.1013-6A>G

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.1013-6A>G
HGVS:
  • NC_000009.12:g.36846935T>C
  • NG_033894.1:g.192545A>G
  • NM_001280547.2:c.911-6A>G
  • NM_001280548.2:c.1013-6299A>G
  • NM_001280549.2:c.781-6A>G
  • NM_001280550.2:c.781-6299A>G
  • NM_001280551.2:c.587-6299A>G
  • NM_001280552.2:c.911-6299A>G
  • NM_001280553.2:c.884-6299A>G
  • NM_001280554.2:c.884-6A>G
  • NM_001280555.2:c.713-6A>G
  • NM_001280556.2:c.689-6A>G
  • NM_016734.3:c.1013-6A>GMANE SELECT
  • LRG_1384t1:c.1013-6A>G
  • LRG_1384:g.192545A>G
  • NC_000009.11:g.36846932T>C
Links:
dbSNP: rs1587737218
NCBI 1000 Genomes Browser:
rs1587737218
Molecular consequence:
  • NM_001280547.2:c.911-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001280548.2:c.1013-6299A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001280549.2:c.781-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001280550.2:c.781-6299A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001280551.2:c.587-6299A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001280552.2:c.911-6299A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001280553.2:c.884-6299A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001280554.2:c.884-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001280555.2:c.713-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001280556.2:c.689-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_016734.3:c.1013-6A>G - intron variant - [Sequence Ontology: SO:0001627]

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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001137816Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2017)		Likely benign
(May 28, 2019) 		unknownclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Mendelics, SCV001137816.1

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

Last Updated: Apr 23, 2022