ClinVar Genomic variation as it relates to human health
NM_001257293.2(HNRNPH1):c.934C>T (p.Leu312Phe)
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_001257293.2(HNRNPH1):c.934C>T (p.Leu312Phe)
Variation ID: 2656133 Accession: VCV002656133.4
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 5q35.3 5: 179617637 (GRCh38) [ NCBI UCSC ] 5: 179044638 (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 Nov 20, 2023 Apr 15, 2024 Jan 1, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_001257293.2:c.934C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001244222.1:p.Leu312Phe missense NM_001363572.2:c.934C>T NP_001350501.1:p.Leu312Phe missense NM_001364225.2:c.934C>T NP_001351154.1:p.Leu312Phe missense NM_001364226.2:c.934C>T NP_001351155.1:p.Leu312Phe missense NM_001364227.2:c.934C>T NP_001351156.1:p.Leu312Phe missense NM_001364228.2:c.934C>T NP_001351157.1:p.Leu312Phe missense NM_001364229.2:c.934C>T NP_001351158.1:p.Leu312Phe missense NM_001364230.2:c.934C>T NP_001351159.1:p.Leu312Phe missense NM_001364231.2:c.934C>T NP_001351160.1:p.Leu312Phe missense NM_001364232.2:c.934C>T NP_001351161.1:p.Leu312Phe missense NM_001364233.2:c.934C>T NP_001351162.1:p.Leu312Phe missense NM_001364234.2:c.934C>T NP_001351163.1:p.Leu312Phe missense NM_001364235.2:c.934C>T NP_001351164.1:p.Leu312Phe missense NM_001364236.2:c.934C>T NP_001351165.1:p.Leu312Phe missense NM_001364237.2:c.934C>T NP_001351166.1:p.Leu312Phe missense NM_001364238.2:c.934C>T NP_001351167.1:p.Leu312Phe missense NM_001364239.2:c.934C>T NP_001351168.1:p.Leu312Phe missense NM_001364240.2:c.913C>T NP_001351169.1:p.Leu305Phe missense NM_001364241.2:c.913C>T NP_001351170.1:p.Leu305Phe missense NM_001364242.2:c.913C>T NP_001351171.1:p.Leu305Phe missense NM_001364243.2:c.913C>T NP_001351172.1:p.Leu305Phe missense NM_001364244.2:c.934C>T NP_001351173.1:p.Leu312Phe missense NM_001364245.2:c.934C>T NP_001351174.1:p.Leu312Phe missense NM_001364246.2:c.934C>T NP_001351175.1:p.Leu312Phe missense NM_001364247.2:c.934C>T NP_001351176.1:p.Leu312Phe missense NM_001364248.2:c.913C>T NP_001351177.1:p.Leu305Phe missense NM_001364250.2:c.778C>T NP_001351179.1:p.Leu260Phe missense NM_001364251.2:c.331C>T NP_001351180.1:p.Leu111Phe missense NM_001364252.2:c.331C>T NP_001351181.1:p.Leu111Phe missense NM_001364253.2:c.331C>T NP_001351182.1:p.Leu111Phe missense NM_001364254.2:c.331C>T NP_001351183.1:p.Leu111Phe missense NM_001364255.2:c.331C>T NP_001351184.1:p.Leu111Phe missense NM_001395176.1:c.934C>T NP_001382105.1:p.Leu312Phe missense NM_001395177.1:c.934C>T NP_001382106.1:p.Leu312Phe missense NM_001395178.1:c.934C>T NP_001382107.1:p.Leu312Phe missense NM_001395179.1:c.913C>T NP_001382108.1:p.Leu305Phe missense NM_001395180.1:c.913C>T NP_001382109.1:p.Leu305Phe missense NM_001395181.1:c.934C>T NP_001382110.1:p.Leu312Phe missense NM_001395182.1:c.934C>T NP_001382111.1:p.Leu312Phe missense NM_001395183.1:c.934C>T NP_001382112.1:p.Leu312Phe missense NM_001395184.1:c.934C>T NP_001382113.1:p.Leu312Phe missense NM_001395186.1:c.913C>T NP_001382115.1:p.Leu305Phe missense NM_001395187.1:c.934C>T NP_001382116.1:p.Leu312Phe missense NM_001395188.1:c.913C>T NP_001382117.1:p.Leu305Phe missense NM_001395189.1:c.934C>T NP_001382118.1:p.Leu312Phe missense NM_001395190.1:c.703C>T NP_001382119.1:p.Leu235Phe missense NM_001395191.1:c.616C>T NP_001382120.1:p.Leu206Phe missense NM_001395192.1:c.616C>T NP_001382121.1:p.Leu206Phe missense NM_001395193.1:c.523C>T NP_001382122.1:p.Leu175Phe missense NM_001395194.1:c.331C>T NP_001382123.1:p.Leu111Phe missense NM_001395195.1:c.331C>T NP_001382124.1:p.Leu111Phe missense NM_005520.3:c.934C>T NP_005511.1:p.Leu312Phe missense NC_000005.10:g.179617637G>A NC_000005.9:g.179044638G>A - Protein change
- L111F, L175F, L206F, L235F, L260F, L305F, L312F
- Other names
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- Canonical SPDI
- NC_000005.10:179617636:G:A
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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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HNRNPH1 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 81 | |
LOC128966623 | - | - | - | GRCh38 | - | 92 |
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
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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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Jan 1, 2023 | RCV003428741.4 |
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
(Jan 01, 2023)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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CeGaT Center for Human Genetics Tuebingen
Accession: SCV004158145.4
First in ClinVar: Nov 20, 2023 Last updated: Apr 15, 2024 |
Comment:
HNRNPH1: PM2, PP2
Number of individuals with the variant: 1
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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 15, 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.