NM_001256470.2(PLEKHA5):c.457C>T (p.His153Tyr) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 30, 2024
- Review status:
- 1 star out of maximum of 4 starscriteria provided, single submitter
- Somatic classification
of clinical impact: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of oncogenicity: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Record status:
- current
- Accession:
- RCV004514140.1
Allele description [Variation Report for NM_001256470.2(PLEKHA5):c.457C>T (p.His153Tyr)]
NM_001256470.2(PLEKHA5):c.457C>T (p.His153Tyr)
- Gene:
- PLEKHA5:pleckstrin homology domain containing A5 [Gene - OMIM - HGNC]
- Variant type:
- single nucleotide variant
- Cytogenetic location:
- 12p12.3
- Genomic location:
- Preferred name:
- NM_001256470.2(PLEKHA5):c.457C>T (p.His153Tyr)
- HGVS:
- NC_000012.12:g.19257457C>T
- NM_001143821.3:c.457C>T
- NM_001190860.1:c.133C>T
- NM_001256470.2:c.457C>TMANE SELECT
- NM_001256787.2:c.133C>T
- NM_001385923.1:c.457C>T
- NM_001385924.1:c.457C>T
- NM_001385925.1:c.457C>T
- NM_001385926.1:c.457C>T
- NM_001385927.1:c.457C>T
- NM_001385928.1:c.457C>T
- NM_001385929.1:c.457C>T
- NM_001385930.1:c.457C>T
- NM_001385931.1:c.457C>T
- NM_001385932.1:c.457C>T
- NM_001385933.1:c.133C>T
- NM_001385934.1:c.457C>T
- NM_001385935.1:c.133C>T
- NM_001385936.1:c.457C>T
- NM_001385937.1:c.457C>T
- NM_001385938.1:c.457C>T
- NM_001385939.1:c.133C>T
- NM_001385940.1:c.133C>T
- NM_001385941.1:c.133C>T
- NM_001385942.1:c.133C>T
- NM_001385943.1:c.457C>T
- NM_001385944.1:c.133C>T
- NM_001385945.1:c.133C>T
- NM_001385946.1:c.457C>T
- NM_001385947.1:c.133C>T
- NM_001385948.1:c.457C>T
- NM_001385949.1:c.457C>T
- NM_001385950.1:c.133C>T
- NM_001385951.1:c.133C>T
- NM_001385952.1:c.133C>T
- NM_001385953.1:c.133C>T
- NM_001385954.1:c.133C>T
- NM_001385955.1:c.133C>T
- NM_001385956.1:c.133C>T
- NM_001385957.1:c.133C>T
- NM_001385958.1:c.133C>T
- NM_001385959.1:c.133C>T
- NM_001385960.1:c.133C>T
- NM_001385961.1:c.133C>T
- NM_001385962.1:c.133C>T
- NM_001385963.1:c.108+2292C>T
- NM_001385964.1:c.133C>T
- NM_001385965.1:c.133C>T
- NM_001385966.1:c.133C>T
- NM_001385967.1:c.133C>T
- NM_001385968.1:c.457C>T
- NM_001385969.1:c.133C>T
- NM_001385970.1:c.133C>T
- NM_001385971.1:c.133C>T
- NM_001385972.1:c.133C>T
- NM_001385973.1:c.133C>T
- NM_019012.6:c.457C>T
- NP_001137293.2:p.His153Tyr
- NP_001177789.1:p.His45Tyr
- NP_001243399.1:p.His153Tyr
- NP_001243716.1:p.His45Tyr
- NP_001372852.1:p.His153Tyr
- NP_001372853.1:p.His153Tyr
- NP_001372854.1:p.His153Tyr
- NP_001372855.1:p.His153Tyr
- NP_001372856.1:p.His153Tyr
- NP_001372857.1:p.His153Tyr
- NP_001372858.1:p.His153Tyr
- NP_001372859.1:p.His153Tyr
- NP_001372860.1:p.His153Tyr
- NP_001372861.1:p.His153Tyr
- NP_001372862.1:p.His45Tyr
- NP_001372863.1:p.His153Tyr
- NP_001372864.1:p.His45Tyr
- NP_001372865.1:p.His153Tyr
- NP_001372866.1:p.His153Tyr
- NP_001372867.1:p.His153Tyr
- NP_001372868.1:p.His45Tyr
- NP_001372869.1:p.His45Tyr
- NP_001372870.1:p.His45Tyr
- NP_001372871.1:p.His45Tyr
- NP_001372872.1:p.His153Tyr
- NP_001372873.1:p.His45Tyr
- NP_001372874.1:p.His45Tyr
- NP_001372875.1:p.His153Tyr
- NP_001372876.1:p.His45Tyr
- NP_001372877.1:p.His153Tyr
- NP_001372878.1:p.His153Tyr
- NP_001372879.1:p.His45Tyr
- NP_001372880.1:p.His45Tyr
- NP_001372881.1:p.His45Tyr
- NP_001372882.1:p.His45Tyr
- NP_001372883.1:p.His45Tyr
- NP_001372884.1:p.His45Tyr
- NP_001372885.1:p.His45Tyr
- NP_001372886.1:p.His45Tyr
- NP_001372887.1:p.His45Tyr
- NP_001372888.1:p.His45Tyr
- NP_001372889.1:p.His45Tyr
- NP_001372890.1:p.His45Tyr
- NP_001372891.1:p.His45Tyr
- NP_001372893.1:p.His45Tyr
- NP_001372894.1:p.His45Tyr
- NP_001372895.1:p.His45Tyr
- NP_001372896.1:p.His45Tyr
- NP_001372897.1:p.His153Tyr
- NP_001372898.1:p.His45Tyr
- NP_001372899.1:p.His45Tyr
- NP_001372900.1:p.His45Tyr
- NP_001372901.1:p.His45Tyr
- NP_001372902.1:p.His45Tyr
- NP_061885.2:p.His153Tyr
- NC_000012.11:g.19410391C>T
- NM_001143821.2:c.457C>T
- NR_169816.1:n.524C>T
- NR_169817.1:n.524C>T
- NR_169818.1:n.524C>T
- NR_169819.1:n.524C>T
- NR_169820.1:n.524C>T
- NR_169821.1:n.524C>T
This HGVS expression did not pass validation- Protein change:
- H153Y
- Molecular consequence:
- NM_001385963.1:c.108+2292C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001143821.3:c.457C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001190860.1:c.133C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001256470.2:c.457C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001256787.2:c.133C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385923.1:c.457C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385924.1:c.457C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385925.1:c.457C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385926.1:c.457C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385927.1:c.457C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385928.1:c.457C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385929.1:c.457C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385930.1:c.457C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385931.1:c.457C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385932.1:c.457C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385933.1:c.133C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385934.1:c.457C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385935.1:c.133C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385936.1:c.457C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385937.1:c.457C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385938.1:c.457C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385939.1:c.133C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385940.1:c.133C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385941.1:c.133C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385942.1:c.133C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385943.1:c.457C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385944.1:c.133C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385945.1:c.133C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385946.1:c.457C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385947.1:c.133C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385948.1:c.457C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385949.1:c.457C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385950.1:c.133C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385951.1:c.133C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385952.1:c.133C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385953.1:c.133C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385954.1:c.133C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385955.1:c.133C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385956.1:c.133C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385957.1:c.133C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385958.1:c.133C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385959.1:c.133C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385960.1:c.133C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385961.1:c.133C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385962.1:c.133C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385964.1:c.133C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385965.1:c.133C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385966.1:c.133C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385967.1:c.133C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385968.1:c.457C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385969.1:c.133C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385970.1:c.133C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385971.1:c.133C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385972.1:c.133C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385973.1:c.133C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_019012.6:c.457C>T - missense variant - [Sequence Ontology: SO:0001583]
- NR_169816.1:n.524C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_169817.1:n.524C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_169818.1:n.524C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_169819.1:n.524C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_169820.1:n.524C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_169821.1:n.524C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
Assertion and evidence details
| Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
|---|---|---|---|---|---|---|
| SCV005004795 | Ambry Genetics | criteria provided, single submitter (Ambry Variant Classification Scheme 2023) | Uncertain significance (Jan 30, 2024) | germline | clinical testing |
Summary from all submissions
| Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
|---|---|---|---|---|---|---|---|---|
| not provided | germline | unknown | not provided | not provided | not provided | not provided | not provided | clinical testing |
Details of each submission
From Ambry Genetics, SCV005004795.1
| # | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
|---|---|---|---|---|---|---|
| 1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
Description
The c.457C>T (p.H153Y) alteration is located in exon 6 (coding exon 6) of the PLEKHA5 gene. This alteration results from a C to T substitution at nucleotide position 457, causing the histidine (H) at amino acid position 153 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
| # | Sample | Method | Observation | |||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
| 1 | germline | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided | |
Last Updated: Nov 3, 2024