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NM_000057.4(BLM):c.3028del (p.Asp1010fs)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Nov 4, 2021)
Last evaluated:
Nov 3, 2021
Accession:
VCV000189048.8
Variation ID:
189048
Description:
1bp deletion
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NM_000057.4(BLM):c.3028del (p.Asp1010fs)

Allele ID
186950
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
15q26.1
Genomic location
15: 90794175 (GRCh38) GRCh38 UCSC
15: 91337405 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_000057.3:c.3028del
NC_000015.10:g.90794175del
NC_000015.9:g.91337405del
... more HGVS
Protein change
D1010fs, D635fs
Other names
-
Canonical SPDI
NC_000015.10:90794174:G:
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00002
The Genome Aggregation Database (gnomAD), exomes 0.00001
Exome Aggregation Consortium (ExAC) 0.00002
The Genome Aggregation Database (gnomAD) 0.00003
Links
ClinGen: CA274319
dbSNP: rs780379121
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 4 criteria provided, multiple submitters, no conflicts Nov 3, 2021 RCV000169440.7
Pathogenic 1 criteria provided, single submitter Jul 14, 2017 RCV000574982.1
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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
(Nov 06, 2014)
criteria provided, single submitter
Method: literature only
Bloom syndrome
(Autosomal recessive inheritance)
Allele origin: unknown
Counsyl
Accession: SCV000220857.1
Submitted: (Mar 11, 2015)
Evidence details
Publications
PubMed (1)
Pathogenic
(Jul 14, 2017)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000672986.3
Submitted: (Nov 30, 2020)
Evidence details
Publications
PubMed (2)
Comment:
The c.3028delG pathogenic mutation, located in coding exon 15 of the BLM gene, results from a deletion of one nucleotide at nucleotide position 3028, causing … (more)
Pathogenic
(Mar 20, 2020)
criteria provided, single submitter
Method: clinical testing
Bloom syndrome
Allele origin: germline
Invitae
Accession: SCV000623297.5
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change creates a premature translational stop signal (p.Asp1010Metfs*24) in the BLM gene. It is expected to result in an absent or disrupted protein … (more)
Pathogenic
(Jun 17, 2019)
criteria provided, single submitter
Method: clinical testing
Bloom syndrome
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001363838.1
Submitted: (Mar 06, 2020)
Evidence details
Publications
PubMed (1)
Comment:
Variant summary: BLM c.3028delG (p.Asp1010MetfsX24) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein … (more)
Pathogenic
(Nov 03, 2021)
criteria provided, single submitter
Method: clinical testing
Bloom syndrome
Allele origin: germline
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden
Accession: SCV002010757.1
Submitted: (Nov 04, 2021)
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
A rigorous approach for selection of optimal variant sets for carrier screening with demonstration of clinical utility. Perreault-Micale C Molecular genetics & genomic medicine 2015 PMID: 26247052
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 rs780379121...

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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