20-32706721-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_053041.3(COMMD7):c.281C>T(p.Ala94Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000204 in 1,613,764 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_053041.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
COMMD7 | ENST00000278980.11 | c.281C>T | p.Ala94Val | missense_variant | Exon 4 of 9 | 1 | NM_053041.3 | ENSP00000278980.6 | ||
ENSG00000285382 | ENST00000646357.1 | c.281C>T | p.Ala94Val | missense_variant | Exon 4 of 9 | ENSP00000493768.1 |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 151952Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000160 AC: 4AN: 249540Hom.: 0 AF XY: 0.0000222 AC XY: 3AN XY: 135404
GnomAD4 exome AF: 0.0000198 AC: 29AN: 1461812Hom.: 0 Cov.: 32 AF XY: 0.0000220 AC XY: 16AN XY: 727212
GnomAD4 genome AF: 0.0000263 AC: 4AN: 151952Hom.: 0 Cov.: 31 AF XY: 0.0000135 AC XY: 1AN XY: 74206
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.281C>T (p.A94V) alteration is located in exon 4 (coding exon 4) of the COMMD7 gene. This alteration results from a C to T substitution at nucleotide position 281, causing the alanine (A) at amino acid position 94 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