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NM_000057.4(BLM):c.3751+2T>C

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jun 25, 2020)
Last evaluated:
May 1, 2019
Accession:
VCV000830240.2
Variation ID:
830240
Description:
single nucleotide variant
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NM_000057.4(BLM):c.3751+2T>C

Allele ID
818697
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q26.1
Genomic location
15: 90804361 (GRCh38) GRCh38 UCSC
15: 91347591 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.10:g.90804361T>C
NC_000015.9:g.91347591T>C
NM_000057.4:c.3751+2T>C MANE Select splice donor
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000015.10:90804360:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter May 1, 2019 RCV001030460.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
BLM - - GRCh38
GRCh37
1991 2041

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(May 01, 2019)
criteria provided, single submitter
Method: research
Hereditary breast and ovarian cancer syndrome
Allele origin: germline
Cancer Genomics Group,Japanese Foundation For Cancer Research
Accession: SCV001193520.2
Submitted: (Jun 25, 2020)
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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Title Author Journal Year Link
Prevalence of disease-causing genes in Japanese patients with <i>BRCA1/2</i>-wildtype hereditary breast and ovarian cancer syndrome. Kaneyasu T NPJ breast cancer 2020 PMID: 32566746

Record last updated Apr 18, 2021