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NM_000057.4(BLM):c.320dup (p.Leu107fs)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 29, 2020
Accession:
VCV000405281.6
Variation ID:
405281
Description:
1bp duplication
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NM_000057.4(BLM):c.320dup (p.Leu107fs)

Allele ID
400922
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
15q26.1
Genomic location
15: 90749586-90749587 (GRCh38) GRCh38 UCSC
15: 91292816-91292817 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_20:g.37217dup
NC_000015.10:g.90749588dup
NC_000015.9:g.91292818dup
... more HGVS
Protein change
L107fs
Other names
-
Canonical SPDI
NC_000015.10:90749586:TT:TTT
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA7738276
dbSNP: rs781221411
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Oct 29, 2020 RCV000477306.7
Likely pathogenic 1 criteria provided, single submitter May 1, 2019 RCV001030680.1
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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
1998 2048

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: SCV001193508.2
Submitted: (Jun 25, 2020)
Evidence details
Pathogenic
(Oct 29, 2020)
criteria provided, single submitter
Method: clinical testing
Bloom syndrome
Allele origin: germline
Invitae
Accession: SCV000543335.7
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change creates a premature translational stop signal (p.Leu107Phefs*36) in the BLM gene. It is expected to result in an absent or disrupted protein … (more)

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
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532
Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry. German J Human mutation 2007 PMID: 17407155

Text-mined citations for rs781221411...

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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 Nov 27, 2021