ClinVar Genomic variation as it relates to human health
NM_004260.4(RECQL4):c.3575T>G (p.Phe1192Cys)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_004260.4(RECQL4):c.3575T>G (p.Phe1192Cys)
Variation ID: 2866760 Accession: VCV002866760.1
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 8q24.3 8: 144511483 (GRCh38) [ NCBI UCSC ] 8: 145736866 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Feb 20, 2024 Feb 20, 2024 May 22, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_004260.4:c.3575T>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_004251.4:p.Phe1192Cys missense NM_001413017.1:c.3281T>G NP_001399946.1:p.Phe1094Cys missense NM_001413018.1:c.3377T>G NP_001399947.1:p.Phe1126Cys missense NM_001413019.1:c.3650T>G NP_001399948.1:p.Phe1217Cys missense NM_001413020.1:c.3479T>G NP_001399949.1:p.Phe1160Cys missense NM_001413021.1:c.2504T>G NP_001399950.1:p.Phe835Cys missense NM_001413022.1:c.2504T>G NP_001399951.1:p.Phe835Cys missense NM_001413023.1:c.2579T>G NP_001399952.1:p.Phe860Cys missense NM_001413024.1:c.2504T>G NP_001399953.1:p.Phe835Cys missense NM_001413025.1:c.3446T>G NP_001399954.1:p.Phe1149Cys missense NM_001413027.1:c.2438T>G NP_001399956.1:p.Phe813Cys missense NM_001413028.1:c.2504T>G NP_001399957.1:p.Phe835Cys missense NM_001413029.1:c.3224T>G NP_001399958.1:p.Phe1075Cys missense NM_001413030.1:c.2438T>G NP_001399959.1:p.Phe813Cys missense NM_001413031.1:c.2306T>G NP_001399960.1:p.Phe769Cys missense NM_001413032.1:c.2438T>G NP_001399961.1:p.Phe813Cys missense NM_001413033.1:c.3443T>G NP_001399962.1:p.Phe1148Cys missense NM_001413034.1:c.2504T>G NP_001399963.1:p.Phe835Cys missense NM_001413035.1:c.2504T>G NP_001399964.1:p.Phe835Cys missense NM_001413036.1:c.3584T>G NP_001399965.1:p.Phe1195Cys missense NM_001413037.1:c.2372T>G NP_001399966.1:p.Phe791Cys missense NM_001413038.1:c.2306T>G NP_001399967.1:p.Phe769Cys missense NM_001413039.1:c.3545T>G NP_001399968.1:p.Phe1182Cys missense NM_001413040.1:c.2504T>G NP_001399969.1:p.Phe835Cys missense NM_001413041.1:c.2513T>G NP_001399970.1:p.Phe838Cys missense NM_001413042.1:c.2474T>G NP_001399971.1:p.Phe825Cys missense NM_001413043.1:c.2108T>G NP_001399972.1:p.Phe703Cys missense NR_182090.1:n.3482T>G non-coding transcript variant NR_182091.1:n.3563T>G non-coding transcript variant NR_182092.1:n.3619T>G non-coding transcript variant NC_000008.11:g.144511483A>C NC_000008.10:g.145736866A>C NG_016430.2:g.11344T>G LRG_277:g.11344T>G LRG_277t1:c.3575T>G LRG_277p1:p.Phe1192Cys - Protein change
- F1149C, F1195C, F791C, F1075C, F1148C, F1182C, F1192C, F825C, F838C, F1094C, F703C, F813C, F860C, F1126C, F1160C, F1217C, F769C, F835C
- Other names
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- Canonical SPDI
- NC_000008.11:144511482:A:C
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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Allele frequency
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The frequency of the allele represented by this VCV record.
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- Links
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
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The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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RECQL4 | - | - |
GRCh38 GRCh37 |
4466 | 4835 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
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The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Uncertain significance (1) |
criteria provided, single submitter
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May 22, 2023 | RCV003616958.1 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
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This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Uncertain significance
(May 22, 2023)
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criteria provided, single submitter
Method: clinical testing
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Baller-Gerold syndrome
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV004470055.1
First in ClinVar: Feb 20, 2024 Last updated: Feb 20, 2024 |
Comment:
In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant … (more)
In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt RECQL4 protein function. This variant has not been reported in the literature in individuals affected with RECQL4-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces phenylalanine, which is neutral and non-polar, with cysteine, which is neutral and slightly polar, at codon 1192 of the RECQL4 protein (p.Phe1192Cys). (less)
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Germline Functional Evidence
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 germline classification of this variant
HelpThere are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar. |
Text-mined citations for this variant ...
HelpRecord last updated Feb 29, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.