NM_001256470.2(PLEKHA5):c.2356A>T (p.Asn786Tyr) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 29, 2022
- 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:
- RCV004151665.1
Allele description [Variation Report for NM_001256470.2(PLEKHA5):c.2356A>T (p.Asn786Tyr)]
NM_001256470.2(PLEKHA5):c.2356A>T (p.Asn786Tyr)
- 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.2356A>T (p.Asn786Tyr)
- HGVS:
- NC_000012.12:g.19322575A>T
- NM_001143821.3:c.2221A>T
- NM_001190860.1:c.1804A>T
- NM_001256470.2:c.2356A>TMANE SELECT
- NM_001256787.2:c.1804A>T
- NM_001385923.1:c.2338A>T
- NM_001385924.1:c.2320A>T
- NM_001385925.1:c.2302A>T
- NM_001385926.1:c.2356A>T
- NM_001385927.1:c.2236A>T
- NM_001385928.1:c.2280+185A>T
- NM_001385929.1:c.2356A>T
- NM_001385930.1:c.2338A>T
- NM_001385931.1:c.2320A>T
- NM_001385932.1:c.2047A>T
- NM_001385933.1:c.2032A>T
- NM_001385934.1:c.2182A>T
- NM_001385935.1:c.1978A>T
- NM_001385936.1:c.2164A>T
- NM_001385937.1:c.2217+1951A>T
- NM_001385938.1:c.2047A>T
- NM_001385939.1:c.2032A>T
- NM_001385940.1:c.1840A>T
- NM_001385941.1:c.2014A>T
- NM_001385942.1:c.1996A>T
- NM_001385943.1:c.2047A>T
- NM_001385944.1:c.1978A>T
- NM_001385945.1:c.1777A>T
- NM_001385946.1:c.1963A>T
- NM_001385947.1:c.2014A>T
- NM_001385948.1:c.1963A>T
- NM_001385949.1:c.2047A>T
- NM_001385950.1:c.1723A>T
- NM_001385951.1:c.1843A>T
- NM_001385952.1:c.1843A>T
- NM_001385953.1:c.1840A>T
- NM_001385954.1:c.1777A>T
- NM_001385955.1:c.1723A>T
- NM_001385956.1:c.1723A>T
- NM_001385957.1:c.1723A>T
- NM_001385958.1:c.1723A>T
- NM_001385959.1:c.1723A>T
- NM_001385960.1:c.1639A>T
- NM_001385961.1:c.1639A>T
- NM_001385962.1:c.1723A>T
- NM_001385963.1:c.1618A>T
- NM_001385964.1:c.1639A>T
- NM_001385965.1:c.1576A>T
- NM_001385966.1:c.1665+185A>T
- NM_001385967.1:c.1552A>T
- NM_001385968.1:c.2221A>T
- NM_001385969.1:c.1723A>T
- NM_001385970.1:c.1723A>T
- NM_001385971.1:c.1723A>T
- NM_001385972.1:c.1723A>T
- NM_001385973.1:c.1723A>T
- NM_019012.6:c.2047A>T
- NP_001137293.2:p.Asn741Tyr
- NP_001177789.1:p.Asn602Tyr
- NP_001243399.1:p.Asn786Tyr
- NP_001243716.1:p.Asn602Tyr
- NP_001372852.1:p.Asn780Tyr
- NP_001372853.1:p.Asn774Tyr
- NP_001372854.1:p.Asn768Tyr
- NP_001372855.1:p.Asn786Tyr
- NP_001372856.1:p.Asn746Tyr
- NP_001372858.1:p.Asn786Tyr
- NP_001372859.1:p.Asn780Tyr
- NP_001372860.1:p.Asn774Tyr
- NP_001372861.1:p.Asn683Tyr
- NP_001372862.1:p.Asn678Tyr
- NP_001372863.1:p.Asn728Tyr
- NP_001372864.1:p.Asn660Tyr
- NP_001372865.1:p.Asn722Tyr
- NP_001372867.1:p.Asn683Tyr
- NP_001372868.1:p.Asn678Tyr
- NP_001372869.1:p.Asn614Tyr
- NP_001372870.1:p.Asn672Tyr
- NP_001372871.1:p.Asn666Tyr
- NP_001372872.1:p.Asn683Tyr
- NP_001372873.1:p.Asn660Tyr
- NP_001372874.1:p.Asn593Tyr
- NP_001372875.1:p.Asn655Tyr
- NP_001372876.1:p.Asn672Tyr
- NP_001372877.1:p.Asn655Tyr
- NP_001372878.1:p.Asn683Tyr
- NP_001372879.1:p.Asn575Tyr
- NP_001372880.1:p.Asn615Tyr
- NP_001372881.1:p.Asn615Tyr
- NP_001372882.1:p.Asn614Tyr
- NP_001372883.1:p.Asn593Tyr
- NP_001372884.1:p.Asn575Tyr
- NP_001372885.1:p.Asn575Tyr
- NP_001372886.1:p.Asn575Tyr
- NP_001372887.1:p.Asn575Tyr
- NP_001372888.1:p.Asn575Tyr
- NP_001372889.1:p.Asn547Tyr
- NP_001372890.1:p.Asn547Tyr
- NP_001372891.1:p.Asn575Tyr
- NP_001372892.1:p.Asn540Tyr
- NP_001372893.1:p.Asn547Tyr
- NP_001372894.1:p.Asn526Tyr
- NP_001372896.1:p.Asn518Tyr
- NP_001372897.1:p.Asn741Tyr
- NP_001372898.1:p.Asn575Tyr
- NP_001372899.1:p.Asn575Tyr
- NP_001372900.1:p.Asn575Tyr
- NP_001372901.1:p.Asn575Tyr
- NP_001372902.1:p.Asn575Tyr
- NP_061885.2:p.Asn683Tyr
- NC_000012.11:g.19475509A>T
- NM_001143821.2:c.2221A>T
- NR_169816.1:n.2436A>T
- NR_169817.1:n.2041A>T
- NR_169818.1:n.2552A>T
- NR_169819.1:n.2418A>T
- NR_169820.1:n.2588A>T
- NR_169821.1:n.2114A>T
This HGVS expression did not pass validation- Protein change:
- N518Y
- Molecular consequence:
- NM_001385928.1:c.2280+185A>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001385937.1:c.2217+1951A>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001385966.1:c.1665+185A>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001143821.3:c.2221A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001190860.1:c.1804A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001256470.2:c.2356A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001256787.2:c.1804A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385923.1:c.2338A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385924.1:c.2320A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385925.1:c.2302A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385926.1:c.2356A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385927.1:c.2236A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385929.1:c.2356A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385930.1:c.2338A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385931.1:c.2320A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385932.1:c.2047A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385933.1:c.2032A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385934.1:c.2182A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385935.1:c.1978A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385936.1:c.2164A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385938.1:c.2047A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385939.1:c.2032A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385940.1:c.1840A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385941.1:c.2014A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385942.1:c.1996A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385943.1:c.2047A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385944.1:c.1978A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385945.1:c.1777A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385946.1:c.1963A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385947.1:c.2014A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385948.1:c.1963A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385949.1:c.2047A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385950.1:c.1723A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385951.1:c.1843A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385952.1:c.1843A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385953.1:c.1840A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385954.1:c.1777A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385955.1:c.1723A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385956.1:c.1723A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385957.1:c.1723A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385958.1:c.1723A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385959.1:c.1723A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385960.1:c.1639A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385961.1:c.1639A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385962.1:c.1723A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385963.1:c.1618A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385964.1:c.1639A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385965.1:c.1576A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385967.1:c.1552A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385968.1:c.2221A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385969.1:c.1723A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385970.1:c.1723A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385971.1:c.1723A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385972.1:c.1723A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001385973.1:c.1723A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_019012.6:c.2047A>T - missense variant - [Sequence Ontology: SO:0001583]
- NR_169816.1:n.2436A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_169817.1:n.2041A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_169818.1:n.2552A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_169819.1:n.2418A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_169820.1:n.2588A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_169821.1:n.2114A>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 |
---|---|---|---|---|---|---|
SCV003626035 | Ambry Genetics | criteria provided, single submitter (Ambry Variant Classification Scheme 2023) | Uncertain significance (Jun 29, 2022) | 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, SCV003626035.2
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
Description
The c.2221A>T (p.N741Y) alteration is located in exon 17 (coding exon 17) of the PLEKHA5 gene. This alteration results from a A to T substitution at nucleotide position 2221, causing the asparagine (N) at amino acid position 741 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: Jun 9, 2024