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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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 results in a frameshift in the RECQL4 gene (p.Glu1201Lysfs*18). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 8 amino acid(s) of the RECQL4 protein and extend the protein by 9 additional amino acid residues.
ClinVar Genomic variation as it relates to human health
NM_004260.4(RECQL4):c.3601del (p.Glu1201fs)
Germline
Classification
Help
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.
(1)
Help
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.
Uncertain significance
1
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_004260.4(RECQL4):c.3601del (p.Glu1201fs)
Variation ID: 2885745 Accession: VCV002885745.1
- Type and length
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Deletion, 1 bp
- Location
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Cytogenetic: 8q24.3 8: 144511457 (GRCh38) [ NCBI UCSC ] 8: 145736840 (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 Mar 24, 2023 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_004260.4:c.3601del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_004251.4:p.Glu1201fs frameshift NM_001413017.1:c.3307del NP_001399946.1:p.Glu1103fs frameshift NM_001413018.1:c.3403del NP_001399947.1:p.Glu1135fs frameshift NM_001413019.1:c.3676del NP_001399948.1:p.Glu1226fs frameshift NM_001413020.1:c.3505del NP_001399949.1:p.Glu1169fs frameshift NM_001413021.1:c.2530del NP_001399950.1:p.Glu844fs frameshift NM_001413022.1:c.2530del NP_001399951.1:p.Glu844fs frameshift NM_001413023.1:c.2605del NP_001399952.1:p.Glu869fs frameshift NM_001413024.1:c.2530del NP_001399953.1:p.Glu844fs frameshift NM_001413025.1:c.3472del NP_001399954.1:p.Glu1158fs frameshift NM_001413027.1:c.2464del NP_001399956.1:p.Glu822fs frameshift NM_001413028.1:c.2530del NP_001399957.1:p.Glu844fs frameshift NM_001413029.1:c.3250del NP_001399958.1:p.Glu1084fs frameshift NM_001413030.1:c.2464del NP_001399959.1:p.Glu822fs frameshift NM_001413031.1:c.2332del NP_001399960.1:p.Glu778fs frameshift NM_001413032.1:c.2464del NP_001399961.1:p.Glu822fs frameshift NM_001413033.1:c.3469del NP_001399962.1:p.Glu1157fs frameshift NM_001413034.1:c.2530del NP_001399963.1:p.Glu844fs frameshift NM_001413035.1:c.2530del NP_001399964.1:p.Glu844fs frameshift NM_001413036.1:c.3610del NP_001399965.1:p.Glu1204fs frameshift NM_001413037.1:c.2398del NP_001399966.1:p.Glu800fs frameshift NM_001413038.1:c.2332del NP_001399967.1:p.Glu778fs frameshift NM_001413039.1:c.3571del NP_001399968.1:p.Glu1191fs frameshift NM_001413040.1:c.2530del NP_001399969.1:p.Glu844fs frameshift NM_001413041.1:c.2539del NP_001399970.1:p.Glu847fs frameshift NM_001413042.1:c.2500del NP_001399971.1:p.Glu834fs frameshift NM_001413043.1:c.2134del NP_001399972.1:p.Glu712fs frameshift NR_182090.1:n.3508del non-coding transcript variant NR_182091.1:n.3589del non-coding transcript variant NR_182092.1:n.3645del non-coding transcript variant NC_000008.11:g.144511458del NC_000008.10:g.145736841del NG_016430.2:g.11370del LRG_277:g.11370del LRG_277t1:c.3601del LRG_277p1:p.Glu1201fs - Protein change
- E1103fs, E1158fs, E1169fs, E1191fs, E1204fs, E1226fs, E1135fs, E822fs, E834fs, E847fs, E1084fs, E1201fs, E844fs, E869fs, E1157fs, E712fs, E778fs, E800fs
- Other names
- -
- Canonical SPDI
- NC_000008.11:144511456:CC: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
Help
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 | ||
|---|---|---|---|---|---|---|
| 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
Help
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. |
|||
| RECQL4 | - | - |
GRCh38 GRCh37 |
4469 | 4838 | |
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
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
|---|---|---|---|---|
| Uncertain significance (1) |
criteria provided, single submitter
|
Mar 24, 2023 | RCV003617137.2 |
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
Help
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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|---|---|---|---|---|---|
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Uncertain significance
(Mar 24, 2023)
|
criteria provided, single submitter
Method: clinical testing
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Baller-Gerold syndrome
Affected status: unknown
Allele origin:
germline
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Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV004509815.1
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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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 results in a frameshift in the RECQL4 gene (p.Glu1201Lysfs*18). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 8 amino acid(s) of the RECQL4 protein and extend the protein by 9 additional amino acid residues. (less)
|
Comment:
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. |
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 of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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 results in a frameshift in the RECQL4 gene (p.Glu1201Lysfs*18). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 8 amino acid(s) of the RECQL4 protein and extend the protein by 9 additional amino acid residues.
Citations for germline classification of this variant
Help| There 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 Sep 30, 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.