chr3-58505276-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_003500.4(ACOX2):c.1994C>A(p.Ala665Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000685 in 1,460,018 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Synonymous variant affecting the same amino acid position (i.e. A665A) has been classified as Likely benign.
Frequency
Consequence
NM_003500.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ACOX2 | NM_003500.4 | c.1994C>A | p.Ala665Asp | missense_variant | 15/15 | ENST00000302819.10 | |
ACOX2 | XM_047449042.1 | c.2192C>A | p.Ala731Asp | missense_variant | 15/15 | ||
ACOX2 | XM_005265505.2 | c.1994C>A | p.Ala665Asp | missense_variant | 15/15 | ||
ACOX2 | XM_006713340.4 | c.1700C>A | p.Ala567Asp | missense_variant | 14/14 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ACOX2 | ENST00000302819.10 | c.1994C>A | p.Ala665Asp | missense_variant | 15/15 | 1 | NM_003500.4 | P1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1460018Hom.: 0 Cov.: 30 AF XY: 0.00000138 AC XY: 1AN XY: 726216
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jun 09, 2022 | The c.1994C>A (p.A665D) alteration is located in exon 15 (coding exon 14) of the ACOX2 gene. This alteration results from a C to A substitution at nucleotide position 1994, causing the alanine (A) at amino acid position 665 to be replaced by an aspartic acid (D). 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.