ClinVar Genomic variation as it relates to human health
NM_172245.4(CSF2RA):c.581T>G (p.Val194Gly)
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_172245.4(CSF2RA):c.581T>G (p.Val194Gly)
Variation ID: 2584842 Accession: VCV002584842.1
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: Xp22.33 Yp11.2 X: 1290444 (GRCh38) [ NCBI UCSC ] Y: 1290444 (GRCh38) [ NCBI UCSC ] X: 1409337 (GRCh37) [ NCBI UCSC ] Y: 1359337 (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 Oct 28, 2023 Oct 28, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_172245.4:c.581T>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_758448.1:p.Val194Gly missense NM_001161529.2:c.581T>G NP_001155001.1:p.Val194Gly missense NM_001161530.2:c.581T>G NP_001155002.1:p.Val194Gly missense NM_001161531.2:c.581T>G NP_001155003.1:p.Val194Gly missense NM_001161532.2:c.182T>G NP_001155004.1:p.Val61Gly missense NM_001379153.1:c.581T>G NP_001366082.1:p.Val194Gly missense NM_001379154.1:c.581T>G NP_001366083.1:p.Val194Gly missense NM_001379155.1:c.581T>G NP_001366084.1:p.Val194Gly missense NM_001379156.1:c.581T>G NP_001366085.1:p.Val194Gly missense NM_001379157.1:c.581T>G NP_001366086.1:p.Val194Gly missense NM_001379158.1:c.581T>G NP_001366087.1:p.Val194Gly missense NM_001379159.1:c.581T>G NP_001366088.1:p.Val194Gly missense NM_001379160.1:c.581T>G NP_001366089.1:p.Val194Gly missense NM_001379161.1:c.581T>G NP_001366090.1:p.Val194Gly missense NM_001379162.1:c.581T>G NP_001366091.1:p.Val194Gly missense NM_001379163.1:c.581T>G NP_001366092.1:p.Val194Gly missense NM_001379164.1:c.581T>G NP_001366093.1:p.Val194Gly missense NM_001379165.1:c.581T>G NP_001366094.1:p.Val194Gly missense NM_001379166.1:c.581T>G NP_001366095.1:p.Val194Gly missense NM_001379167.1:c.581T>G NP_001366096.1:p.Val194Gly missense NM_001379168.1:c.581T>G NP_001366097.1:p.Val194Gly missense NM_001379169.1:c.581T>G NP_001366098.1:p.Val194Gly missense NM_006140.6:c.581T>G NP_006131.2:p.Val194Gly missense NM_172246.4:c.581T>G NP_758449.1:p.Val194Gly missense NM_172247.3:c.581T>G NP_758450.1:p.Val194Gly missense NM_172249.4:c.581T>G NP_758452.1:p.Val194Gly missense NR_027760.3:n.761T>G non-coding transcript variant NC_000023.11:g.1290444T>G NC_000024.10:g.1290444T>G NC_000023.10:g.1409337T>G NC_000024.9:g.1359337T>G NG_012280.1:g.26645T>G LRG_186:g.26645T>G LRG_186t1:c.581T>G LRG_186p1:p.Val194Gly LRG_186t2:c.581T>G LRG_186p2:p.Val194Gly LRG_186t3:c.581T>G LRG_186p3:p.Val194Gly - Protein change
- V61G, V194G
- Other names
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- Canonical SPDI
- NC_000024.10:1290443:T:G
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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
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Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
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The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
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The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
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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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CSF2RA |
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GRCh38 GRCh38 |
426 | 553 |
Conditions - Germline
Condition
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The condition for this variant-condition (RCV) record in ClinVar. |
Classification
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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
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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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- | RCV003340742.2 |
Submissions - Germline
Classification
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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
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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
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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
(-)
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criteria provided, single submitter
Method: clinical testing
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Surfactant metabolism dysfunction, pulmonary, 4
(Autosomal recessive inheritance)
Affected status: yes
Allele origin:
germline
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Neuberg Centre For Genomic Medicine, NCGM
Accession: SCV004047432.1
First in ClinVar: Oct 28, 2023 Last updated: Oct 28, 2023 |
Comment:
The missense variant p.V194G in CSF2RA (NM_172245.4) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The … (more)
The missense variant p.V194G in CSF2RA (NM_172245.4) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.V194G variant is novel (not in any individuals) in gnomAD exomes and is novel (not in any individuals) in 1000 Genomes. There is a moderate physicochemical difference between valine and glycine. For these reasons, this variant has been classified as Variant of Uncertain Significance (VUS). Since the gene is in the pseudoautosomal region homozygous and compound heterozygous variants have been previously reported in affected females. (less)
Clinical Features:
Cough (present) , Fatigue (present) , Dyspnea (present) , Pulmonary alveolar proteinosis (present) , Recurrent urinary tract infections (present) , Anemia (present)
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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 Apr 06, 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.