The p.D872Y variant (also known as c.2614G>T), located in coding exon 18 of the TSC1 gene, results from a G to T substitution at nucleotide position 2614. The aspartic acid at codon 872 is replaced by tyrosine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
ClinVar Genomic variation as it relates to human health
NM_000368.5(TSC1):c.2614G>T (p.Asp872Tyr)
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_000368.5(TSC1):c.2614G>T (p.Asp872Tyr)
Variation ID: 2562851 Accession: VCV002562851.2
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 9q34.13 9: 132900726 (GRCh38) [ NCBI UCSC ] 9: 135776113 (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 Jul 8, 2023 May 1, 2024 Apr 9, 2023 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_000368.5:c.2614G>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000359.1:p.Asp872Tyr missense NM_001162426.2:c.2611G>T NP_001155898.1:p.Asp871Tyr missense NM_001162427.2:c.2461G>T NP_001155899.1:p.Asp821Tyr missense NM_001362177.2:c.2251G>T NP_001349106.1:p.Asp751Tyr missense NM_001406592.1:c.2614G>T NP_001393521.1:p.Asp872Tyr missense NM_001406593.1:c.2614G>T NP_001393522.1:p.Asp872Tyr missense NM_001406594.1:c.2614G>T NP_001393523.1:p.Asp872Tyr missense NM_001406595.1:c.2614G>T NP_001393524.1:p.Asp872Tyr missense NM_001406596.1:c.2614G>T NP_001393525.1:p.Asp872Tyr missense NM_001406597.1:c.2611G>T NP_001393526.1:p.Asp871Tyr missense NM_001406598.1:c.2611G>T NP_001393527.1:p.Asp871Tyr missense NM_001406599.1:c.2611G>T NP_001393528.1:p.Asp871Tyr missense NM_001406600.1:c.2611G>T NP_001393529.1:p.Asp871Tyr missense NM_001406601.1:c.2599G>T NP_001393530.1:p.Asp867Tyr missense NM_001406602.1:c.2599G>T NP_001393531.1:p.Asp867Tyr missense NM_001406603.1:c.2596G>T NP_001393532.1:p.Asp866Tyr missense NM_001406604.1:c.2596G>T NP_001393533.1:p.Asp866Tyr missense NM_001406605.1:c.2572G>T NP_001393534.1:p.Asp858Tyr missense NM_001406606.1:c.2572G>T NP_001393535.1:p.Asp858Tyr missense NM_001406607.1:c.2572G>T NP_001393536.1:p.Asp858Tyr missense NM_001406608.1:c.2569G>T NP_001393537.1:p.Asp857Tyr missense NM_001406609.1:c.2569G>T NP_001393538.1:p.Asp857Tyr missense NM_001406610.1:c.2461G>T NP_001393539.1:p.Asp821Tyr missense NM_001406611.1:c.2458G>T NP_001393540.1:p.Asp820Tyr missense NM_001406612.1:c.2458G>T NP_001393541.1:p.Asp820Tyr missense NM_001406613.1:c.2416G>T NP_001393542.1:p.Asp806Tyr missense NM_001406614.1:c.2251G>T NP_001393543.1:p.Asp751Tyr missense NM_001406615.1:c.2251G>T NP_001393544.1:p.Asp751Tyr missense NM_001406616.1:c.2251G>T NP_001393545.1:p.Asp751Tyr missense NM_001406617.1:c.2251G>T NP_001393546.1:p.Asp751Tyr missense NM_001406618.1:c.2251G>T NP_001393547.1:p.Asp751Tyr missense NM_001406619.1:c.2251G>T NP_001393548.1:p.Asp751Tyr missense NM_001406620.1:c.2248G>T NP_001393549.1:p.Asp750Tyr missense NM_001406621.1:c.2248G>T NP_001393550.1:p.Asp750Tyr missense NM_001406622.1:c.2248G>T NP_001393551.1:p.Asp750Tyr missense NM_001406623.1:c.2248G>T NP_001393552.1:p.Asp750Tyr missense NM_001406624.1:c.2209G>T NP_001393553.1:p.Asp737Tyr missense NM_001406625.1:c.2206G>T NP_001393554.1:p.Asp736Tyr missense NM_001406626.1:c.1663G>T NP_001393555.1:p.Asp555Tyr missense NM_001406627.1:c.1660G>T NP_001393556.1:p.Asp554Tyr missense NM_001406628.1:c.1660G>T NP_001393557.1:p.Asp554Tyr missense NM_001406629.1:c.1561G>T NP_001393558.1:p.Asp521Tyr missense NM_001406630.1:c.1561G>T NP_001393559.1:p.Asp521Tyr missense NR_176214.1:n.2664G>T non-coding transcript variant NR_176215.1:n.2831G>T non-coding transcript variant NR_176216.1:n.2698G>T non-coding transcript variant NR_176217.1:n.2828G>T non-coding transcript variant NR_176218.1:n.2827G>T non-coding transcript variant NC_000009.12:g.132900726C>A NC_000009.11:g.135776113C>A NG_012386.1:g.48908G>T LRG_486:g.48908G>T LRG_486t1:c.2614G>T LRG_486p1:p.Asp872Tyr - Protein change
- D555Y, D751Y, D820Y, D867Y, D806Y, D821Y, D857Y, D858Y, D871Y, D521Y, D554Y, D736Y, D737Y, D866Y, D750Y, D872Y
- Other names
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- Canonical SPDI
- NC_000009.12:132900725:C: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
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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| TSC1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
4843 | 4901 | |
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
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Apr 9, 2023 | RCV003296844.2 |
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
(Apr 09, 2023)
|
criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV003995855.2
First in ClinVar: Jul 08, 2023 Last updated: May 01, 2024 |
Comment:
The p.D872Y variant (also known as c.2614G>T), located in coding exon 18 of the TSC1 gene, results from a G to T substitution at nucleotide … (more)
The p.D872Y variant (also known as c.2614G>T), located in coding exon 18 of the TSC1 gene, results from a G to T substitution at nucleotide position 2614. The aspartic acid at codon 872 is replaced by tyrosine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. (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 p.D872Y variant (also known as c.2614G>T), located in coding exon 18 of the TSC1 gene, results from a G to T substitution at nucleotide position 2614. The aspartic acid at codon 872 is replaced by tyrosine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
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 May 01, 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.