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NM_000057.4(BLM):c.3102G>A (p.Thr1034=)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
8 (Most recent: Jul 13, 2021)
Last evaluated:
Jul 1, 2021
Accession:
VCV000092394.9
Variation ID:
92394
Description:
single nucleotide variant
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NM_000057.4(BLM):c.3102G>A (p.Thr1034=)

Allele ID
98305
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q26.1
Genomic location
15: 90794249 (GRCh38) GRCh38 UCSC
15: 91337479 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.10:g.90794249G>A
NC_000015.9:g.91337479G>A
NG_007272.1:g.81878G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000015.10:90794248:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.15116 (A)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.15644
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.18456
The Genome Aggregation Database (gnomAD) 0.18788
1000 Genomes Project 0.15116
Exome Aggregation Consortium (ExAC) 0.16113
Trans-Omics for Precision Medicine (TOPMed) 0.17657
Links
ClinGen: CA145695
dbSNP: rs2227933
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 4 criteria provided, multiple submitters, no conflicts Mar 28, 2016 RCV000078059.10
Benign 3 criteria provided, multiple submitters, no conflicts Jul 1, 2021 RCV000366766.5
Benign 1 criteria provided, single submitter Aug 10, 2016 RCV000566151.1
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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
1995 2045

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Jul 29, 2013)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000109897.8
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000301739.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Mar 28, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000538415.1
Submitted: (Apr 03, 2017)
Evidence details
Comment:
Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or … (more)
Benign
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Bloom syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000394423.3
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
(Aug 10, 2016)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000672861.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA … (more)
Benign
(Dec 01, 2020)
criteria provided, single submitter
Method: clinical testing
Bloom syndrome
Allele origin: germline
Invitae
Accession: SCV001000393.3
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Jul 01, 2021)
criteria provided, single submitter
Method: clinical testing
Bloom syndrome
Allele origin: germline
Nilou-Genome Lab
Accession: SCV001750179.1
Submitted: (Jul 13, 2021)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
AllHighlyPenetrant
(Autosomal recessive inheritance)
Allele origin: germline
Genetic Services Laboratory,University of Chicago
Accession: SCV000150447.2
Submitted: (Jun 27, 2014)
Evidence details
Comment:
Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated … (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 rs2227933...

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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 20, 2021