ClinVar Genomic variation as it relates to human health
NM_001256470.2(PLEKHA5):c.3068C>T (p.Thr1023Ile)
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
-
NM_001256470.2(PLEKHA5):c.3068C>T (p.Thr1023Ile)
Variation ID: 2545221 Accession: VCV002545221.2
- Type and length
-
single nucleotide variant, 1 bp
- Location
-
Cytogenetic: 12p12.3 12: 19353932 (GRCh38) [ NCBI UCSC ] 12: 19506866 (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 May 8, 2023 - HGVS
-
Nucleotide Protein Molecular
consequenceNM_001256470.2:c.3068C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001243399.1:p.Thr1023Ile missense NM_001143821.3:c.2744C>T NP_001137293.2:p.Thr915Ile missense NM_001190860.1:c.2516C>T NP_001177789.1:p.Thr839Ile missense NM_001256787.2:c.2516C>T NP_001243716.1:p.Thr839Ile missense NM_001385923.1:c.3050C>T NP_001372852.1:p.Thr1017Ile missense NM_001385924.1:c.3032C>T NP_001372853.1:p.Thr1011Ile missense NM_001385925.1:c.3014C>T NP_001372854.1:p.Thr1005Ile missense NM_001385926.1:c.3068C>T NP_001372855.1:p.Thr1023Ile missense NM_001385927.1:c.2948C>T NP_001372856.1:p.Thr983Ile missense NM_001385928.1:c.2900C>T NP_001372857.1:p.Thr967Ile missense NM_001385929.1:c.2879C>T NP_001372858.1:p.Thr960Ile missense NM_001385930.1:c.2861C>T NP_001372859.1:p.Thr954Ile missense NM_001385931.1:c.2843C>T NP_001372860.1:p.Thr948Ile missense NM_001385932.1:c.2759C>T NP_001372861.1:p.Thr920Ile missense NM_001385933.1:c.2744C>T NP_001372862.1:p.Thr915Ile missense NM_001385934.1:c.2705C>T NP_001372863.1:p.Thr902Ile missense NM_001385935.1:c.2690C>T NP_001372864.1:p.Thr897Ile missense NM_001385936.1:c.2687C>T NP_001372865.1:p.Thr896Ile missense NM_001385937.1:c.2648C>T NP_001372866.1:p.Thr883Ile missense NM_001385938.1:c.2555C>T NP_001372867.1:p.Thr852Ile missense NM_001385939.1:c.2555C>T NP_001372868.1:p.Thr852Ile missense NM_001385940.1:c.2552C>T NP_001372869.1:p.Thr851Ile missense NM_001385941.1:c.2537C>T NP_001372870.1:p.Thr846Ile missense NM_001385942.1:c.2519C>T NP_001372871.1:p.Thr840Ile missense NM_001385943.1:c.2570C>T NP_001372872.1:p.Thr857Ile missense NM_001385944.1:c.2501C>T NP_001372873.1:p.Thr834Ile missense NM_001385945.1:c.2489C>T NP_001372874.1:p.Thr830Ile missense NM_001385946.1:c.2486C>T NP_001372875.1:p.Thr829Ile missense NM_001385947.1:c.2537C>T NP_001372876.1:p.Thr846Ile missense NM_001385948.1:c.2471C>T NP_001372877.1:p.Thr824Ile missense NM_001385949.1:c.2468C>T NP_001372878.1:p.Thr823Ile missense NM_001385950.1:c.2435C>T NP_001372879.1:p.Thr812Ile missense NM_001385951.1:c.2366C>T NP_001372880.1:p.Thr789Ile missense NM_001385952.1:c.2366C>T NP_001372881.1:p.Thr789Ile missense NM_001385953.1:c.2363C>T NP_001372882.1:p.Thr788Ile missense NM_001385954.1:c.2300C>T NP_001372883.1:p.Thr767Ile missense NM_001385955.1:c.2246C>T NP_001372884.1:p.Thr749Ile missense NM_001385956.1:c.2246C>T NP_001372885.1:p.Thr749Ile missense NM_001385957.1:c.2246C>T NP_001372886.1:p.Thr749Ile missense NM_001385958.1:c.2231C>T NP_001372887.1:p.Thr744Ile missense NM_001385959.1:c.2246C>T NP_001372888.1:p.Thr749Ile missense NM_001385960.1:c.2162C>T NP_001372889.1:p.Thr721Ile missense NM_001385961.1:c.2162C>T NP_001372890.1:p.Thr721Ile missense NM_001385962.1:c.2144C>T NP_001372891.1:p.Thr715Ile missense NM_001385963.1:c.2141C>T NP_001372892.1:p.Thr714Ile missense NM_001385964.1:c.2162C>T NP_001372893.1:p.Thr721Ile missense NM_001385965.1:c.2099C>T NP_001372894.1:p.Thr700Ile missense NM_001385966.1:c.2096C>T NP_001372895.1:p.Thr699Ile missense NM_001385967.1:c.2075C>T NP_001372896.1:p.Thr692Ile missense NM_001385968.1:c.2744C>T NP_001372897.1:p.Thr915Ile missense NM_001385969.1:c.2246C>T NP_001372898.1:p.Thr749Ile missense NM_001385970.1:c.2246C>T NP_001372899.1:p.Thr749Ile missense NM_001385971.1:c.2246C>T NP_001372900.1:p.Thr749Ile missense NM_001385972.1:c.2246C>T NP_001372901.1:p.Thr749Ile missense NM_001385973.1:c.2231C>T NP_001372902.1:p.Thr744Ile missense NM_019012.6:c.2570C>T NP_061885.2:p.Thr857Ile missense NR_169816.1:n.2959C>T non-coding transcript variant NR_169817.1:n.2564C>T non-coding transcript variant NR_169818.1:n.3151C>T non-coding transcript variant NR_169819.1:n.3130C>T non-coding transcript variant NR_169820.1:n.3300C>T non-coding transcript variant NR_169821.1:n.2590C>T non-coding transcript variant NC_000012.12:g.19353932C>T NC_000012.11:g.19506866C>T - Protein change
- T1023I, T767I, T851I, T852I, T915I, T920I, T948I, T1005I, T700I, T715I, T721I, T788I, T812I, T823I, T824I, T830I, T834I, T857I, T883I, T896I, T983I, T1017I, T692I, T749I, T829I, T846I, T902I, T954I, T1011I, T699I, T714I, T744I, T789I, T839I, T840I, T897I, T960I, T967I
- Other names
- -
- Canonical SPDI
- NC_000012.12:19353931:C:T
-
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. |
|||
PLEKHA5 | - | - |
GRCh38 GRCh37 |
78 | 115 |
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
|
May 8, 2023 | RCV004314944.1 |
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
(May 08, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV003979256.2
First in ClinVar: Jul 08, 2023 Last updated: May 01, 2024 |
Comment:
The c.2744C>T (p.T915I) alteration is located in exon 22 (coding exon 22) of the PLEKHA5 gene. This alteration results from a C to T substitution … (more)
The c.2744C>T (p.T915I) alteration is located in exon 22 (coding exon 22) of the PLEKHA5 gene. This alteration results from a C to T substitution at nucleotide position 2744, causing the threonine (T) at amino acid position 915 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. (less)
|
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 May 19, 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.