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NM_000057.4(BLM):c.3020-66T>C AND Hereditary cancer-predisposing syndrome

Germline classification:
Likely benign (1 submission)
Last evaluated:
Dec 1, 2015
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000209738.3

Allele description [Variation Report for NM_000057.4(BLM):c.3020-66T>C]

NM_000057.4(BLM):c.3020-66T>C

Gene:
BLM:BLM RecQ like helicase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q26.1
Genomic location:
Preferred name:
NM_000057.4(BLM):c.3020-66T>C
HGVS:
  • NC_000015.10:g.90794101T>C
  • NG_007272.1:g.81730T>C
  • NM_000057.4:c.3020-66T>CMANE SELECT
  • NM_001287246.2:c.3020-66T>C
  • NM_001287247.2:c.3020-66T>C
  • NM_001287248.2:c.1895-66T>C
  • LRG_20:g.81730T>C
  • NC_000015.9:g.91337331T>C
Links:
dbSNP: rs28385101
NCBI 1000 Genomes Browser:
rs28385101
Molecular consequence:
  • NM_000057.4:c.3020-66T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001287246.2:c.3020-66T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001287247.2:c.3020-66T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001287248.2:c.1895-66T>C - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000264959University of Washington Department of Laboratory Medicine, University of Washington
no assertion criteria provided
Likely benign
(Dec 1, 2015) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From University of Washington Department of Laboratory Medicine, University of Washington, SCV000264959.1

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

Last Updated: Dec 24, 2023