The p.Q1752P variant (also known as c.5255A>C), located in coding exon 40 of the TSC2 gene, results from an A to C substitution at nucleotide position 5255. The glutamine at codon 1752 is replaced by proline, an amino acid with similar 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_000548.5(TSC2):c.5255A>C (p.Gln1752Pro)
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
-
NM_000548.5(TSC2):c.5255A>C (p.Gln1752Pro)
Variation ID: 2564710 Accession: VCV002564710.2
- Type and length
-
single nucleotide variant, 1 bp
- Location
-
Cytogenetic: 16p13.3 16: 2088321 (GRCh38) [ NCBI UCSC ] 16: 2138322 (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 Jul 8, 2023 May 1, 2024 Apr 18, 2023 - HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_000548.5:c.5255A>C MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000539.2:p.Gln1752Pro missense NM_001077183.3:c.5054A>C NP_001070651.1:p.Gln1685Pro missense NM_001114382.3:c.5186A>C NP_001107854.1:p.Gln1729Pro missense NM_001318827.2:c.4946A>C NP_001305756.1:p.Gln1649Pro missense NM_001318829.2:c.4910A>C NP_001305758.1:p.Gln1637Pro missense NM_001318831.2:c.4523A>C NP_001305760.1:p.Gln1508Pro missense NM_001318832.2:c.5087A>C NP_001305761.1:p.Gln1696Pro missense NM_001363528.2:c.5057A>C NP_001350457.1:p.Gln1686Pro missense NM_001370404.1:c.5123A>C NP_001357333.1:p.Gln1708Pro missense NM_001370405.1:c.5114A>C NP_001357334.1:p.Gln1705Pro missense NM_001406663.1:c.5252A>C NP_001393592.1:p.Gln1751Pro missense NM_001406664.1:c.5183A>C NP_001393593.1:p.Gln1728Pro missense NM_001406665.1:c.5177A>C NP_001393594.1:p.Gln1726Pro missense NM_001406667.1:c.5147A>C NP_001393596.1:p.Gln1716Pro missense NM_001406668.1:c.5144A>C NP_001393597.1:p.Gln1715Pro missense NM_001406670.1:c.5075A>C NP_001393599.1:p.Gln1692Pro missense NM_001406671.1:c.5045A>C NP_001393600.1:p.Gln1682Pro missense NM_001406673.1:c.5042A>C NP_001393602.1:p.Gln1681Pro missense NM_001406675.1:c.5039A>C NP_001393604.1:p.Gln1680Pro missense NM_001406676.1:c.5036A>C NP_001393605.1:p.Gln1679Pro missense NM_001406677.1:c.4997A>C NP_001393606.1:p.Gln1666Pro missense NM_001406678.1:c.4943A>C NP_001393607.1:p.Gln1648Pro missense NM_001406679.1:c.4907A>C NP_001393608.1:p.Gln1636Pro missense NM_001406680.1:c.4655A>C NP_001393609.1:p.Gln1552Pro missense NM_001406681.1:c.4595A>C NP_001393610.1:p.Gln1532Pro missense NM_001406682.1:c.4586A>C NP_001393611.1:p.Gln1529Pro missense NM_001406683.1:c.4586A>C NP_001393612.1:p.Gln1529Pro missense NM_001406684.1:c.4583A>C NP_001393613.1:p.Gln1528Pro missense NM_001406685.1:c.4457A>C NP_001393614.1:p.Gln1486Pro missense NM_001406686.1:c.4457A>C NP_001393615.1:p.Gln1486Pro missense NM_001406687.1:c.4454A>C NP_001393616.1:p.Gln1485Pro missense NM_001406688.1:c.4454A>C NP_001393617.1:p.Gln1485Pro missense NM_001406689.1:c.3842A>C NP_001393618.1:p.Gln1281Pro missense NM_001406690.1:c.3782A>C NP_001393619.1:p.Gln1261Pro missense NM_001406691.1:c.3779A>C NP_001393620.1:p.Gln1260Pro missense NM_001406692.1:c.3713A>C NP_001393621.1:p.Gln1238Pro missense NM_001406693.1:c.3713A>C NP_001393622.1:p.Gln1238Pro missense NM_001406694.1:c.3713A>C NP_001393623.1:p.Gln1238Pro missense NM_001406695.1:c.3710A>C NP_001393624.1:p.Gln1237Pro missense NM_001406696.1:c.3710A>C NP_001393625.1:p.Gln1237Pro missense NM_001406697.1:c.3710A>C NP_001393626.1:p.Gln1237Pro missense NM_001406698.1:c.3452A>C NP_001393627.1:p.Gln1151Pro missense NM_021055.3:c.5126A>C NP_066399.2:p.Gln1709Pro missense NR_176225.1:n.5207A>C non-coding transcript variant NR_176226.1:n.5455A>C non-coding transcript variant NR_176227.1:n.5383A>C non-coding transcript variant NR_176228.1:n.5204A>C non-coding transcript variant NR_176229.1:n.5129A>C non-coding transcript variant NC_000016.10:g.2088321A>C NC_000016.9:g.2138322A>C NG_005895.1:g.44016A>C NG_008617.1:g.54900T>G LRG_487:g.44016A>C LRG_487t1:c.5255A>C LRG_487p1:p.Gln1752Pro - Protein change
- Q1237P, Q1281P, Q1529P, Q1552P, Q1679P, Q1685P, Q1715P, Q1726P, Q1485P, Q1486P, Q1682P, Q1709P, Q1716P, Q1751P, Q1261P, Q1508P, Q1636P, Q1637P, Q1680P, Q1681P, Q1708P, Q1728P, Q1752P, Q1151P, Q1238P, Q1260P, Q1528P, Q1532P, Q1648P, Q1649P, Q1666P, Q1686P, Q1692P, Q1696P, Q1705P, Q1729P
- Other names
- -
- Canonical SPDI
- NC_000016.10:2088320:A:C
-
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. |
|||
| TSC2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
10752 | 10951 | |
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
|
Apr 18, 2023 | RCV003297142.2 |
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
(Apr 18, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV003998634.2
First in ClinVar: Jul 08, 2023 Last updated: May 01, 2024 |
Comment:
The p.Q1752P variant (also known as c.5255A>C), located in coding exon 40 of the TSC2 gene, results from an A to C substitution at nucleotide … (more)
The p.Q1752P variant (also known as c.5255A>C), located in coding exon 40 of the TSC2 gene, results from an A to C substitution at nucleotide position 5255. The glutamine at codon 1752 is replaced by proline, an amino acid with similar 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.Q1752P variant (also known as c.5255A>C), located in coding exon 40 of the TSC2 gene, results from an A to C substitution at nucleotide position 5255. The glutamine at codon 1752 is replaced by proline, an amino acid with similar 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.