This sequence change creates a premature translational stop signal (p.Gln573*) in the RECQL4 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with RECQL4-related conditions. ClinVar contains an entry for this variant (Variation ID: 620609). Loss-of-function variants in RECQL4 are known to be pathogenic (PMID: 12734318, 12952869). For these reasons, this variant has been classified as Pathogenic.
ClinVar Genomic variation as it relates to human health
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- Interpretation:
-
Pathogenic/Likely pathogenic
- Review status:
- criteria provided, multiple submitters, no conflicts
- Submissions:
- 2
- First in ClinVar:
- Mar 19, 2019
- Most recent Submission:
- Feb 7, 2023
- Last evaluated:
- Apr 6, 2019
- Accession:
- VCV000620609.5
- Variation ID:
- 620609
- Description:
- single nucleotide variant
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NM_004260.4(RECQL4):c.1717C>T (p.Gln573Ter)
- Allele ID
- 611998
- Variant type
- single nucleotide variant
- Variant length
- 1 bp
- Cytogenetic location
- 8q24.3
- Genomic location
- 8: 145739734 (GRCh37) GRCh37 UCSC
- 8: 144514350 (GRCh38) GRCh38 UCSC
- HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_004260.4:c.1717C>T MANE Select NP_004251.4:p.Gln573Ter nonsense NC_000008.11:g.144514350G>A NC_000008.10:g.145739734G>A NG_016430.2:g.8477C>T NG_033083.1:g.1386G>A LRG_277:g.8477C>T LRG_277t1:c.1717C>T LRG_277p1:p.Gln573Ter - Protein change
- Q573*
- Other names
- -
- Canonical SPDI
- NC_000008.11:144514349:G:A
- Functional consequence
- -
- Global minor allele frequency (GMAF)
- -
- Allele frequency
- Trans-Omics for Precision Medicine (TOPMed) 0.00002
- Trans-Omics for Precision Medicine (TOPMed) 0.00001
- The Genome Aggregation Database (gnomAD) 0.00003
- Links
- dbSNP: rs1483085748
- VarSome
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Aggregate interpretations per condition
| Interpreted condition | Interpretation | Number of submissions | Review status | Last evaluated | Variation/condition record |
|---|---|---|---|---|---|
| Likely pathogenic | 1 | criteria provided, single submitter | Jun 17, 2016 | RCV000761065.2 | |
| Pathogenic | 1 | criteria provided, single submitter | Apr 6, 2019 | RCV001061144.3 |
Submitted interpretations and evidence
Help| Interpretation (Last evaluated) |
Review status (Assertion criteria) |
Condition (Inheritance) |
Submitter | More information | |
|---|---|---|---|---|---|
|
Likely pathogenic
(Jun 17, 2016)
|
criteria provided, single submitter
Method: clinical testing
|
Affected status: yes
Allele origin:
germline
|
St. Jude Molecular Pathology, St. Jude Children's Research Hospital
Accession: SCV000890980.1
First in ClinVar: Mar 19, 2019 Last updated: Mar 19, 2019 |
|
|
|
Pathogenic
(Apr 06, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
Affected status: unknown
Allele origin:
germline
|
Invitae
Accession: SCV001225877.3
First in ClinVar: Apr 15, 2020 Last updated: Feb 07, 2023 |
Comment:
This sequence change creates a premature translational stop signal (p.Gln573*) in the RECQL4 gene. It is expected to result in an absent or disrupted protein … (more)
This sequence change creates a premature translational stop signal (p.Gln573*) in the RECQL4 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with RECQL4-related conditions. ClinVar contains an entry for this variant (Variation ID: 620609). Loss-of-function variants in RECQL4 are known to be pathogenic (PMID: 12734318, 12952869). For these reasons, this variant has been classified as Pathogenic. (less)
|
Functional evidence
Help| 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
Help| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases. | Siitonen HA | Human molecular genetics | 2003 | PMID: 12952869 |
| Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome. | Wang LL | Journal of the National Cancer Institute | 2003 | PMID: 12734318 |
Text-mined citations for rs1483085748...
HelpThese 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 Feb 07, 2023