The HNRNPH1 c.898G>A variant is predicted to result in the amino acid substitution p.Ala300Thr. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
ClinVar Genomic variation as it relates to human health
NM_001257293.2(HNRNPH1):c.898G>A (p.Ala300Thr)
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
no assertion criteria provided
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_001257293.2(HNRNPH1):c.898G>A (p.Ala300Thr)
Variation ID: 3039891 Accession: VCV003039891.2
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 5q35.3 5: 179617822 (GRCh38) [ NCBI UCSC ] 5: 179044823 (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 Mar 17, 2024 Oct 8, 2024 Feb 8, 2024 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_001257293.2:c.898G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001244222.1:p.Ala300Thr missense NM_001363572.2:c.898G>A NP_001350501.1:p.Ala300Thr missense NM_001364225.2:c.898G>A NP_001351154.1:p.Ala300Thr missense NM_001364226.2:c.898G>A NP_001351155.1:p.Ala300Thr missense NM_001364227.2:c.898G>A NP_001351156.1:p.Ala300Thr missense NM_001364228.2:c.898G>A NP_001351157.1:p.Ala300Thr missense NM_001364229.2:c.898G>A NP_001351158.1:p.Ala300Thr missense NM_001364230.2:c.898G>A NP_001351159.1:p.Ala300Thr missense NM_001364231.2:c.898G>A NP_001351160.1:p.Ala300Thr missense NM_001364232.2:c.898G>A NP_001351161.1:p.Ala300Thr missense NM_001364233.2:c.898G>A NP_001351162.1:p.Ala300Thr missense NM_001364234.2:c.898G>A NP_001351163.1:p.Ala300Thr missense NM_001364235.2:c.898G>A NP_001351164.1:p.Ala300Thr missense NM_001364236.2:c.898G>A NP_001351165.1:p.Ala300Thr missense NM_001364237.2:c.898G>A NP_001351166.1:p.Ala300Thr missense NM_001364238.2:c.898G>A NP_001351167.1:p.Ala300Thr missense NM_001364239.2:c.898G>A NP_001351168.1:p.Ala300Thr missense NM_001364240.2:c.877G>A NP_001351169.1:p.Ala293Thr missense NM_001364241.2:c.877G>A NP_001351170.1:p.Ala293Thr missense NM_001364242.2:c.877G>A NP_001351171.1:p.Ala293Thr missense NM_001364243.2:c.877G>A NP_001351172.1:p.Ala293Thr missense NM_001364244.2:c.898G>A NP_001351173.1:p.Ala300Thr missense NM_001364245.2:c.898G>A NP_001351174.1:p.Ala300Thr missense NM_001364246.2:c.898G>A NP_001351175.1:p.Ala300Thr missense NM_001364247.2:c.898G>A NP_001351176.1:p.Ala300Thr missense NM_001364248.2:c.877G>A NP_001351177.1:p.Ala293Thr missense NM_001364250.2:c.742G>A NP_001351179.1:p.Ala248Thr missense NM_001364251.2:c.295G>A NP_001351180.1:p.Ala99Thr missense NM_001364252.2:c.295G>A NP_001351181.1:p.Ala99Thr missense NM_001364253.2:c.295G>A NP_001351182.1:p.Ala99Thr missense NM_001364254.2:c.295G>A NP_001351183.1:p.Ala99Thr missense NM_001364255.2:c.295G>A NP_001351184.1:p.Ala99Thr missense NM_001395176.1:c.898G>A NP_001382105.1:p.Ala300Thr missense NM_001395177.1:c.898G>A NP_001382106.1:p.Ala300Thr missense NM_001395178.1:c.898G>A NP_001382107.1:p.Ala300Thr missense NM_001395179.1:c.877G>A NP_001382108.1:p.Ala293Thr missense NM_001395180.1:c.877G>A NP_001382109.1:p.Ala293Thr missense NM_001395181.1:c.898G>A NP_001382110.1:p.Ala300Thr missense NM_001395182.1:c.898G>A NP_001382111.1:p.Ala300Thr missense NM_001395183.1:c.898G>A NP_001382112.1:p.Ala300Thr missense NM_001395184.1:c.898G>A NP_001382113.1:p.Ala300Thr missense NM_001395186.1:c.877G>A NP_001382115.1:p.Ala293Thr missense NM_001395187.1:c.898G>A NP_001382116.1:p.Ala300Thr missense NM_001395188.1:c.877G>A NP_001382117.1:p.Ala293Thr missense NM_001395189.1:c.898G>A NP_001382118.1:p.Ala300Thr missense NM_001395190.1:c.667G>A NP_001382119.1:p.Ala223Thr missense NM_001395191.1:c.580G>A NP_001382120.1:p.Ala194Thr missense NM_001395192.1:c.580G>A NP_001382121.1:p.Ala194Thr missense NM_001395193.1:c.487G>A NP_001382122.1:p.Ala163Thr missense NM_001395194.1:c.295G>A NP_001382123.1:p.Ala99Thr missense NM_001395195.1:c.295G>A NP_001382124.1:p.Ala99Thr missense NM_005520.3:c.898G>A NP_005511.1:p.Ala300Thr missense NC_000005.10:g.179617822C>T NC_000005.9:g.179044823C>T - Protein change
- A163T, A194T, A223T, A248T, A293T, A300T, A99T
- Other names
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- Canonical SPDI
- NC_000005.10:179617821:C:T
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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. |
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| HNRNPH1 | - | - |
GRCh38 GRCh38 GRCh37 |
3 | 95 | |
| LOC128966623 | - | - | - | GRCh38 | - | 109 |
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. |
|---|---|---|---|---|
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HNRNPH1-related disorder
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Uncertain significance (1) |
no assertion criteria provided
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Feb 8, 2024 | RCV003923866.2 |
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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Uncertain significance
(Feb 08, 2024)
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no assertion criteria provided
Method: clinical testing
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HNRNPH1-related condition
Affected status: unknown
Allele origin:
germline
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PreventionGenetics, part of Exact Sciences
Accession: SCV004742243.2
First in ClinVar: Mar 16, 2024 Last updated: Oct 08, 2024 |
Comment:
The HNRNPH1 c.898G>A variant is predicted to result in the amino acid substitution p.Ala300Thr. To our knowledge, this variant has not been reported in the … (more)
The HNRNPH1 c.898G>A variant is predicted to result in the amino acid substitution p.Ala300Thr. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. (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:
The HNRNPH1 c.898G>A variant is predicted to result in the amino acid substitution p.Ala300Thr. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
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 Oct 13, 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.