The p.G1511C variant (also known as c.4531G>T), located in coding exon 34 of the TSC2 gene, results from a G to T substitution at nucleotide position 4531. The glycine at codon 1511 is replaced by cysteine, 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_000548.5(TSC2):c.4531G>T (p.Gly1511Cys)
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_000548.5(TSC2):c.4531G>T (p.Gly1511Cys)
Variation ID: 1741286 Accession: VCV001741286.2
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 16p13.3 16: 2084988 (GRCh38) [ NCBI UCSC ] 16: 2134989 (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 29, 2022 May 1, 2024 Sep 12, 2022 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_000548.5:c.4531G>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000539.2:p.Gly1511Cys missense NM_001077183.3:c.4330G>T NP_001070651.1:p.Gly1444Cys missense NM_001114382.3:c.4462G>T NP_001107854.1:p.Gly1488Cys missense NM_001318827.2:c.4222G>T NP_001305756.1:p.Gly1408Cys missense NM_001318829.2:c.4186G>T NP_001305758.1:p.Gly1396Cys missense NM_001318831.2:c.3799G>T NP_001305760.1:p.Gly1267Cys missense NM_001318832.2:c.4363G>T NP_001305761.1:p.Gly1455Cys missense NM_001363528.2:c.4333G>T NP_001350457.1:p.Gly1445Cys missense NM_001370404.1:c.4399G>T NP_001357333.1:p.Gly1467Cys missense NM_001370405.1:c.4402G>T NP_001357334.1:p.Gly1468Cys missense NM_001406663.1:c.4528G>T NP_001393592.1:p.Gly1510Cys missense NM_001406664.1:c.4459G>T NP_001393593.1:p.Gly1487Cys missense NM_001406665.1:c.4453G>T NP_001393594.1:p.Gly1485Cys missense NM_001406667.1:c.4423G>T NP_001393596.1:p.Gly1475Cys missense NM_001406668.1:c.4420G>T NP_001393597.1:p.Gly1474Cys missense NM_001406670.1:c.4351G>T NP_001393599.1:p.Gly1451Cys missense NM_001406671.1:c.4321G>T NP_001393600.1:p.Gly1441Cys missense NM_001406673.1:c.4318G>T NP_001393602.1:p.Gly1440Cys missense NM_001406675.1:c.4315G>T NP_001393604.1:p.Gly1439Cys missense NM_001406676.1:c.4312G>T NP_001393605.1:p.Gly1438Cys missense NM_001406677.1:c.4273G>T NP_001393606.1:p.Gly1425Cys missense NM_001406678.1:c.4219G>T NP_001393607.1:p.Gly1407Cys missense NM_001406679.1:c.4183G>T NP_001393608.1:p.Gly1395Cys missense NM_001406680.1:c.3931G>T NP_001393609.1:p.Gly1311Cys missense NM_001406681.1:c.3871G>T NP_001393610.1:p.Gly1291Cys missense NM_001406682.1:c.3862G>T NP_001393611.1:p.Gly1288Cys missense NM_001406683.1:c.3862G>T NP_001393612.1:p.Gly1288Cys missense NM_001406684.1:c.3859G>T NP_001393613.1:p.Gly1287Cys missense NM_001406685.1:c.3733G>T NP_001393614.1:p.Gly1245Cys missense NM_001406686.1:c.3733G>T NP_001393615.1:p.Gly1245Cys missense NM_001406687.1:c.3730G>T NP_001393616.1:p.Gly1244Cys missense NM_001406688.1:c.3730G>T NP_001393617.1:p.Gly1244Cys missense NM_001406689.1:c.3118G>T NP_001393618.1:p.Gly1040Cys missense NM_001406690.1:c.3058G>T NP_001393619.1:p.Gly1020Cys missense NM_001406691.1:c.3055G>T NP_001393620.1:p.Gly1019Cys missense NM_001406692.1:c.2989G>T NP_001393621.1:p.Gly997Cys missense NM_001406693.1:c.2989G>T NP_001393622.1:p.Gly997Cys missense NM_001406694.1:c.2989G>T NP_001393623.1:p.Gly997Cys missense NM_001406695.1:c.2986G>T NP_001393624.1:p.Gly996Cys missense NM_001406696.1:c.2986G>T NP_001393625.1:p.Gly996Cys missense NM_001406697.1:c.2986G>T NP_001393626.1:p.Gly996Cys missense NM_001406698.1:c.2728G>T NP_001393627.1:p.Gly910Cys missense NM_021055.3:c.4402G>T NP_066399.2:p.Gly1468Cys missense NR_176225.1:n.4483G>T NR_176226.1:n.4731G>T NR_176227.1:n.4659G>T NR_176228.1:n.4480G>T NR_176229.1:n.4440G>T NC_000016.10:g.2084988G>T NC_000016.9:g.2134989G>T NG_005895.1:g.40683G>T LRG_487:g.40683G>T LRG_487t1:c.4531G>T LRG_487p1:p.Gly1511Cys - Protein change
- G1040C, G1288C, G1291C, G1395C, G1407C, G1444C, G1474C, G1485C, G1311C, G1396C, G1439C, G1468C, G1475C, G1487C, G1488C, G1510C, G996C, G1019C, G1020C, G1267C, G1287C, G1408C, G1438C, G1441C, G1445C, G910C, G1244C, G1245C, G1425C, G1440C, G1451C, G1455C, G1467C, G1511C, G997C
- Other names
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- Canonical SPDI
- NC_000016.10:2084987:G: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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| TSC2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
10745 | 10944 | |
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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Sep 12, 2022 | RCV002340057.2 |
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
(Sep 12, 2022)
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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: SCV002637176.2
First in ClinVar: Nov 29, 2022 Last updated: May 01, 2024 |
Comment:
The p.G1511C variant (also known as c.4531G>T), located in coding exon 34 of the TSC2 gene, results from a G to T substitution at nucleotide … (more)
The p.G1511C variant (also known as c.4531G>T), located in coding exon 34 of the TSC2 gene, results from a G to T substitution at nucleotide position 4531. The glycine at codon 1511 is replaced by cysteine, 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.G1511C variant (also known as c.4531G>T), located in coding exon 34 of the TSC2 gene, results from a G to T substitution at nucleotide position 4531. The glycine at codon 1511 is replaced by cysteine, 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.