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NM_004260.4(RECQL4):c.1395G>A (p.Thr465=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Aug 5, 2021)
Last evaluated:
Jul 1, 2021
Accession:
VCV000198789.12
Variation ID:
198789
Description:
single nucleotide variant
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NM_004260.4(RECQL4):c.1395G>A (p.Thr465=)

Allele ID
195949
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
8q24.3
Genomic location
8: 144515238 (GRCh38) GRCh38 UCSC
8: 145740622 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_277:g.7589G>A
LRG_277t1:c.1395G>A LRG_277p1:p.Thr465=
NC_000008.11:g.144515238C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000008.11:144515237:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00160 (T)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00477
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00589
1000 Genomes Project 0.00160
The Genome Aggregation Database (gnomAD) 0.00557
The Genome Aggregation Database (gnomAD) 0.00714
Trans-Omics for Precision Medicine (TOPMed) 0.00533
Exome Aggregation Consortium (ExAC) 0.01165
The Genome Aggregation Database (gnomAD), exomes 0.00542
Links
ClinGen: CA203608
dbSNP: rs34948955
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 2 criteria provided, multiple submitters, no conflicts Jul 1, 2021 RCV000762541.5
Benign 1 criteria provided, single submitter Apr 8, 2015 RCV000180240.1
Benign 1 criteria provided, single submitter Dec 6, 2020 RCV000233725.5
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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
Benign
(Apr 08, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000232639.5
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(Feb 10, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001771991.1
Submitted: (Aug 05, 2021)
Evidence details
Benign
(Dec 06, 2020)
criteria provided, single submitter
Method: clinical testing
Baller-Gerold syndrome
Allele origin: germline
Invitae
Accession: SCV000288175.5
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Jul 01, 2021)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV000892871.8
Submitted: (Jul 04, 2021)
Evidence details

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=RECQL4 - - - -

Text-mined citations for rs34948955...

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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