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NM_000057.4(BLM):c.98+1G>A

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Aug 31, 2020
Accession:
VCV000371055.3
Variation ID:
371055
Description:
single nucleotide variant
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NM_000057.4(BLM):c.98+1G>A

Allele ID
358341
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q26.1
Genomic location
15: 91290721 (GRCh37) GRCh37 UCSC
15: 90747491 (GRCh38) GRCh38 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.10:g.90747491G>A
NC_000015.9:g.91290721G>A
NG_007272.1:g.35120G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000015.10:90747490:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA7738232
dbSNP: rs750293380
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 Aug 31, 2020 RCV000409688.3
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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
1995 2045

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Jun 15, 2016)
criteria provided, single submitter
Method: clinical testing
Bloom syndrome
Allele origin: unknown
Counsyl
Accession: SCV000486519.1
Submitted: (Nov 23, 2016)
Evidence details
Publications
PubMed (1)
Likely pathogenic
(Aug 31, 2020)
criteria provided, single submitter
Method: clinical testing
Bloom syndrome
Allele origin: germline
Invitae
Accession: SCV001390676.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change affects a donor splice site in intron 2 of the BLM gene. It is expected to disrupt RNA splicing and likely results … (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
Deleterious Germline BLM Mutations and the Risk for Early-onset Colorectal Cancer. de Voer RM Scientific reports 2015 PMID: 26358404
Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry. German J Human mutation 2007 PMID: 17407155
Splicing in action: assessing disease causing sequence changes. Baralle D Journal of medical genetics 2005 PMID: 16199547

Text-mined citations for rs750293380...

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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 Oct 08, 2021