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NM_000057.4(BLM):c.4077-10C>T

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 4, 2020
Accession:
VCV000136521.8
Variation ID:
136521
Description:
single nucleotide variant
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NM_000057.4(BLM):c.4077-10C>T

Allele ID
140224
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q26.1
Genomic location
15: 90815092 (GRCh38) GRCh38 UCSC
15: 91358322 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.10:g.90815092C>T
NC_000015.9:g.91358322C>T
NG_007272.1:g.102721C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000015.10:90815091:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00120 (T)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00057
The Genome Aggregation Database (gnomAD) 0.00233
Exome Aggregation Consortium (ExAC) 0.00066
The Genome Aggregation Database (gnomAD) 0.00198
1000 Genomes Project 0.00120
Trans-Omics for Precision Medicine (TOPMed) 0.00266
Trans-Omics for Precision Medicine (TOPMed) 0.00272
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00331
Links
ClinGen: CA289713
dbSNP: rs145310008
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 3 criteria provided, multiple submitters, no conflicts Dec 23, 2019 RCV000123854.4
Benign/Likely benign 3 criteria provided, multiple submitters, no conflicts Dec 4, 2020 RCV000227864.10
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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
Benign
(Feb 26, 2014)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000167197.11
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Likely benign
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Bloom syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000394434.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Dec 04, 2020)
criteria provided, single submitter
Method: clinical testing
Bloom syndrome
Allele origin: germline
Invitae
Accession: SCV000283147.7
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Aug 08, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000855793.1
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(May 28, 2019)
criteria provided, single submitter
Method: clinical testing
Bloom syndrome
Allele origin: unknown
Mendelics
Accession: SCV001139717.1
Submitted: (Oct 22, 2019)
Evidence details
Benign
(Dec 23, 2019)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000918646.2
Submitted: (Mar 06, 2020)
Evidence details
Comment:
Variant summary: BLM c.4077-10C>T alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly … (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
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=BLM - - - -

Text-mined citations for rs145310008...

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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