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NM_000057.4(BLM):c.3956del (p.Ile1319fs)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 7, 2020
Accession:
VCV000554289.3
Variation ID:
554289
Description:
1bp deletion
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NM_000057.4(BLM):c.3956del (p.Ile1319fs)

Allele ID
547713
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
15q26.1
Genomic location
15: 90811286 (GRCh38) GRCh38 UCSC
15: 91354516 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_000057.3:c.3956del
LRG_20:g.98915del
NC_000015.10:g.90811286del
... more HGVS
Protein change
I944fs, I1319fs, I1188fs
Other names
-
Canonical SPDI
NC_000015.10:90811285:T:
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1555425080
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 2 criteria provided, multiple submitters, no conflicts Oct 7, 2020 RCV000669899.3
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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
(Oct 13, 2017)
criteria provided, single submitter
Method: clinical testing
Bloom syndrome
Allele origin: unknown
Counsyl
Accession: SCV000794698.1
Submitted: (Jul 10, 2018)
Evidence details
Publications
PubMed (1)
Likely pathogenic
(Oct 07, 2020)
criteria provided, single submitter
Method: clinical testing
Bloom syndrome
Allele origin: germline
Invitae
Accession: SCV001219727.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change results in a premature translational stop signal in the BLM gene (p.Ile1319Asnfs*87). While this is not anticipated to result in nonsense mediated … (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
Regulation of BLM Nucleolar Localization. Tangeman L Genes 2016 PMID: 27657136
Localization of the Bloom syndrome helicase to punctate nuclear structures and the nuclear matrix and regulation during the cell cycle: comparison with the Werner's syndrome helicase. Gharibyan V Molecular carcinogenesis 1999 PMID: 10569803
BLM (the causative gene of Bloom syndrome) protein translocation into the nucleus by a nuclear localization signal. Kaneko H Biochemical and biophysical research communications 1997 PMID: 9388480

Text-mined citations for rs1555425080...

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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