ENST00000445828.5:c.561+4462A>G
Variant names:
Variant summary
Our verdict is Uncertain significance. The variant received 0 ACMG points: 0P and 0B.
The ENST00000445828.5(ANKRD26):c.561+4461G>. variant causes a intron change. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
GnomAD MNV: 𝑓 N/A
Genomes: 𝑓 N/A ( N/A hom., cov: )
Exomes 𝑓: N/A ( N/A hom. )
Consequence
ANKRD26
ENST00000445828.5 intron
ENST00000445828.5 intron
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
No conservation score assigned
Publications
No publications found
Genes affected
ANKRD26 (HGNC:29186): (ankyrin repeat domain containing 26) This gene encodes a protein containing N-terminal ankyrin repeats which function in protein-protein interactions. Mutations in this gene are associated with autosomal dominant thrombocytopenia-2. Pseudogenes of this gene are found on chromosome 7, 10, 13 and 16. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
ANKRD26 Gene-Disease associations (from GenCC):
- thrombocytopenia 2Inheritance: AD Classification: DEFINITIVE, STRONG Submitted by: ClinGen, Ambry Genetics, G2P, Labcorp Genetics (formerly Invitae)
- acute myeloid leukemiaInheritance: AD Classification: STRONG Submitted by: Genomics England PanelApp
- autosomal thrombocytopenia with normal plateletsInheritance: AD Classification: SUPPORTIVE Submitted by: Orphanet
- hereditary thrombocytopenia and hematologic cancer predisposition syndromeInheritance: AD Classification: SUPPORTIVE Submitted by: Orphanet
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ACMG classification
Classification was made for transcript
Our verdict: Uncertain_significance. The variant received 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ANKRD26 | XM_017015928.2 | c.6085+5755G>. | intron_variant | Intron 34 of 39 | XP_016871417.1 | |||
ANKRD26 | XM_047424821.1 | c.6085+5755G>. | intron_variant | Intron 34 of 40 | XP_047280777.1 | |||
ANKRD26 | XM_047424822.1 | c.6085+5755G>. | intron_variant | Intron 34 of 35 | XP_047280778.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ANKRD26 | ENST00000445828.5 | c.561+4461G>. | intron_variant | Intron 4 of 5 | 5 | ENSP00000394152.1 | ||||
ANKRD26 | ENST00000674670.1 | n.487+5755G>. | intron_variant | Intron 3 of 5 | ENSP00000502448.1 | |||||
ANKRD26 | ENST00000675439.1 | n.322+5755G>. | intron_variant | Intron 3 of 5 | ENSP00000502237.1 | |||||
ANKRD26 | ENST00000675936.1 | n.1521+4455G>. | intron_variant | Intron 11 of 12 | ENSP00000502093.1 |
Frequencies
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
We have no GnomAD4 genomes data on this position. Probably position not covered by the project.
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
Splicing
Name
Calibrated prediction
Score
Prediction
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
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