ClinVar Genomic variation as it relates to human health
NM_001128205.2(SULF1):c.223del (p.Ala75fs)
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
-
NM_001128205.2(SULF1):c.223del (p.Ala75fs)
Variation ID: 2872714 Accession: VCV002872714.1
- Type and length
-
Deletion, 1 bp
- Location
-
Cytogenetic: 8q13.2 8: 69576014 (GRCh38) [ NCBI UCSC ] 8: 70488249 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
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 Dec 26, 2022 - HGVS
-
Nucleotide Protein Molecular
consequenceNM_001128205.2:c.223del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001121677.1:p.Ala75fs frameshift NM_001128204.2:c.223del NP_001121676.1:p.Ala75fs frameshift NM_001128206.2:c.223del NP_001121678.1:p.Ala75fs frameshift NM_001412828.1:c.223del NP_001399757.1:p.Ala75fs frameshift NM_001412829.1:c.223del NP_001399758.1:p.Ala75fs frameshift NM_001412830.1:c.223del NP_001399759.1:p.Ala75fs frameshift NM_001412831.1:c.223del NP_001399760.1:p.Ala75fs frameshift NM_001412832.1:c.223del NP_001399761.1:p.Ala75fs frameshift NM_001412833.1:c.223del NP_001399762.1:p.Ala75fs frameshift NM_001412834.1:c.223del NP_001399763.1:p.Ala75fs frameshift NM_001412835.1:c.223del NP_001399764.1:p.Ala75fs frameshift NM_001412836.1:c.223del NP_001399765.1:p.Ala75fs frameshift NM_001412837.1:c.223del NP_001399766.1:p.Ala75fs frameshift NM_001412838.1:c.223del NP_001399767.1:p.Ala75fs frameshift NM_001412839.1:c.223del NP_001399768.1:p.Ala75fs frameshift NM_001412840.1:c.223del NP_001399769.1:p.Ala75fs frameshift NM_001412841.1:c.37del NP_001399770.1:p.Ala13fs frameshift NM_001412842.1:c.37del NP_001399771.1:p.Ala13fs frameshift NM_001412843.1:c.223delG NP_001399772.1:p.Ala75Profs frameshift NM_001412844.1:c.-304del 5 prime UTR NM_001412845.1:c.-304del 5 prime UTR NM_001412846.1:c.-1479del 5 prime UTR NM_001412847.1:c.223del NP_001399776.1:p.Ala75fs frameshift NM_001412848.1:c.223del NP_001399777.1:p.Ala75fs frameshift NM_001412849.1:c.223del NP_001399778.1:p.Ala75fs frameshift NM_001412850.1:c.223del NP_001399779.1:p.Ala75fs frameshift NM_001412851.1:c.223del NP_001399780.1:p.Ala75fs frameshift NM_015170.3:c.223del NP_055985.2:p.Ala75fs frameshift NR_156414.2:n.730del non-coding transcript variant NR_156415.2:n.892del non-coding transcript variant NR_182050.1:n.621del non-coding transcript variant NR_182051.1:n.783del non-coding transcript variant NR_182053.1:n.783del non-coding transcript variant NR_182055.1:n.361del non-coding transcript variant NC_000008.11:g.69576020del NC_000008.10:g.70488255del NG_042849.1:g.114397del - Protein change
- A75fs, A13fs
- Other names
- -
- Canonical SPDI
- NC_000008.11:69576013:GGGGGGG:GGGGGG
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
-
-
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.
-
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
-
- 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. |
|||
SULF1 | - | - |
GRCh38 GRCh37 |
305 | 339 |
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
|
Dec 26, 2022 | RCV003707008.2 |
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. |
|
---|---|---|---|---|---|
Uncertain significance
(Dec 26, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV004473693.1
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. This variant has not been reported in the literature in individuals affected with SULF1-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change creates a premature translational stop signal (p.Ala75Profs*8) in the SULF1 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in SULF1 cause disease. (less)
|
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 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.