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NM_000057.4(BLM):c.581_582del (p.Phe193_Phe194insTer)

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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:
Dec 23, 2019
Accession:
VCV000189032.3
Variation ID:
189032
Description:
2bp deletion
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NM_000057.4(BLM):c.581_582del (p.Phe193_Phe194insTer)

Allele ID
186946
Variant type
Deletion
Variant length
2 bp
Cytogenetic location
15q26.1
Genomic location
15: 90749845-90749846 (GRCh38) GRCh38 UCSC
15: 91293075-91293076 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_20:g.37478_37479del
LRG_20t1:c.581_582del
NC_000015.10:g.90749849_90749850del
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000015.10:90749844:TTTTTT:TTTT
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA274291
dbSNP: rs367543026
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 2 criteria provided, multiple submitters, no conflicts Dec 23, 2019 RCV000169422.3
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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
(Oct 22, 2014)
criteria provided, single submitter
Method: literature only
Bloom syndrome
(Autosomal recessive inheritance)
Allele origin: unknown
Counsyl
Accession: SCV000220831.1
Submitted: (Mar 11, 2015)
Evidence details
Publications
PubMed (1)
Pathogenic
(Dec 23, 2019)
criteria provided, single submitter
Method: clinical testing
Bloom syndrome
Allele origin: germline
Invitae
Accession: SCV001228415.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change creates a premature translational stop signal (p.Phe194*) 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
Three new BLM gene mutations associated with Bloom syndrome. Amor-Guéret M Genetic testing 2008 PMID: 18471088
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 rs367543026...

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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