2-69519087-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_014911.5(AAK1):c.1364C>T(p.Ala455Val) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. A455S) has been classified as Uncertain significance.
Frequency
Consequence
NM_014911.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
AAK1 | NM_014911.5 | c.1364C>T | p.Ala455Val | missense_variant | 12/22 | ENST00000409085.9 | |
AAK1 | NM_001371575.1 | c.1364C>T | p.Ala455Val | missense_variant | 12/21 | ||
AAK1 | NM_001371577.1 | c.1364C>T | p.Ala455Val | missense_variant | 12/15 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
AAK1 | ENST00000409085.9 | c.1364C>T | p.Ala455Val | missense_variant | 12/22 | 5 | NM_014911.5 | ||
AAK1 | ENST00000406297.7 | c.1364C>T | p.Ala455Val | missense_variant | 12/18 | 1 | |||
AAK1 | ENST00000606389.8 | c.1364C>T | p.Ala455Val | missense_variant | 12/18 | 5 | P1 | ||
AAK1 | ENST00000409068.5 | c.1364C>T | p.Ala455Val | missense_variant | 12/15 | 2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1399792Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 690458
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jun 11, 2021 | The c.1364C>T (p.A455V) alteration is located in exon 12 (coding exon 11) of the AAK1 gene. This alteration results from a C to T substitution at nucleotide position 1364, causing the alanine (A) at amino acid position 455 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.