9-98134841-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_052820.4(CORO2A):c.433G>A(p.Ala145Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000248 in 1,613,538 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_052820.4 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 |
---|---|---|---|---|---|---|---|
CORO2A | NM_052820.4 | c.433G>A | p.Ala145Thr | missense_variant | 4/12 | ENST00000375077.5 | |
CORO2A | NM_003389.3 | c.433G>A | p.Ala145Thr | missense_variant | 4/12 | ||
CORO2A | XM_011518986.4 | c.433G>A | p.Ala145Thr | missense_variant | 4/12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CORO2A | ENST00000375077.5 | c.433G>A | p.Ala145Thr | missense_variant | 4/12 | 1 | NM_052820.4 | P1 | |
CORO2A | ENST00000343933.9 | c.433G>A | p.Ala145Thr | missense_variant | 4/12 | 1 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000985 AC: 15AN: 152208Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000441 AC: 11AN: 249614Hom.: 0 AF XY: 0.0000222 AC XY: 3AN XY: 134942
GnomAD4 exome AF: 0.0000171 AC: 25AN: 1461330Hom.: 0 Cov.: 31 AF XY: 0.0000193 AC XY: 14AN XY: 726922
GnomAD4 genome ? AF: 0.0000985 AC: 15AN: 152208Hom.: 0 Cov.: 32 AF XY: 0.0000672 AC XY: 5AN XY: 74372
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 05, 2023 | The c.433G>A (p.A145T) alteration is located in exon 4 (coding exon 3) of the CORO2A gene. This alteration results from a G to A substitution at nucleotide position 433, causing the alanine (A) at amino acid position 145 to be replaced by a threonine (T). 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