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NM_004260.4(RECQL4):c.3062G>A (p.Arg1021Gln)

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(2);Likely benign(1);Uncertain significance(3)

Review status:
criteria provided, conflicting interpretations
Submissions:
11 (Most recent: Nov 4, 2021)
Last evaluated:
Nov 3, 2021
Accession:
VCV000135147.17
Variation ID:
135147
Description:
single nucleotide variant
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NM_004260.4(RECQL4):c.3062G>A (p.Arg1021Gln)

Allele ID
138886
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
8q24.3
Genomic location
8: 144512318 (GRCh38) GRCh38 UCSC
8: 145737701 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_277:g.10509G>A
LRG_277t1:c.3062G>A LRG_277p1:p.Arg1021Gln
NC_000008.10:g.145737701C>T
... more HGVS
Protein change
R1021Q
Other names
-
Canonical SPDI
NC_000008.11:144512317:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00120 (T)

Allele frequency
1000 Genomes Project 0.00120
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00522
Trans-Omics for Precision Medicine (TOPMed) 0.00426
Links
ClinGen: CA161851
dbSNP: rs34666647
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Conflicting interpretations of pathogenicity 3 criteria provided, conflicting interpretations Jun 30, 2016 RCV000121948.5
Conflicting interpretations of pathogenicity 6 criteria provided, conflicting interpretations Jan 6, 2020 RCV000232650.12
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Nov 3, 2021 RCV001079354.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
RECQL4 - - GRCh38
GRCh37
2672 2750

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jul 27, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Genetic Services Laboratory,University of Chicago
Accession: SCV000248689.1
Submitted: (Sep 15, 2015)
Evidence details
Likely benign
(Jun 30, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000332632.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(Dec 04, 2020)
criteria provided, single submitter
Method: clinical testing
Baller-Gerold syndrome
Allele origin: germline
Invitae
Accession: SCV000288252.7
Submitted: (Jan 07, 2021)
Evidence details
Uncertain significance
(Oct 01, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001155568.7
Submitted: (Jul 04, 2021)
Evidence details
Benign
(Jan 06, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001865208.1
Submitted: (Sep 14, 2021)
Evidence details
Comment:
This variant is associated with the following publications: (PMID: 15897384, 30007837, 12734318, 24728327)
Uncertain significance
(Nov 03, 2021)
criteria provided, single submitter
Method: clinical testing
Baller-Gerold syndrome
Allele origin: germline
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden
Accession: SCV002009904.1
Submitted: (Nov 04, 2021)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
Study: VKGL Data-share Consensus
Accession: SCV001798702.1
Submitted: (Aug 19, 2021)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Genome Diagnostics Laboratory, Amsterdam University Medical Center
Study: VKGL Data-share Consensus
Accession: SCV001809121.1
Submitted: (Aug 24, 2021)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Genome Diagnostics Laboratory, University Medical Center Utrecht
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001931146.1
Submitted: (Sep 23, 2021)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001969598.1
Submitted: (Sep 21, 2021)
Evidence details
not provided
(Sep 19, 2013)
no assertion provided
Method: reference population
AllHighlyPenetrant
Allele origin: germline
ITMI
Accession: SCV000086155.1
Submitted: (May 29, 2014)
Comment:
Please see associated publication for description of ethnicities
Evidence details
Publications
PubMed (1)

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
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing. Bodian DL PloS one 2014 PMID: 24728327
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=RECQL4 - - - -

Text-mined citations for rs34666647...

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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 Dec 04, 2021