chr4-48483845-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_152679.4(SLC10A4):c.284C>A(p.Pro95Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000351 in 1,538,736 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_152679.4 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 |
---|---|---|---|---|---|---|---|
SLC10A4 | NM_152679.4 | c.284C>A | p.Pro95Gln | missense_variant | 1/3 | ENST00000273861.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SLC10A4 | ENST00000273861.5 | c.284C>A | p.Pro95Gln | missense_variant | 1/3 | 1 | NM_152679.4 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000328 AC: 5AN: 152220Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000436 AC: 6AN: 137754Hom.: 0 AF XY: 0.0000535 AC XY: 4AN XY: 74716
GnomAD4 exome AF: 0.0000353 AC: 49AN: 1386398Hom.: 0 Cov.: 31 AF XY: 0.0000322 AC XY: 22AN XY: 683746
GnomAD4 genome AF: 0.0000328 AC: 5AN: 152338Hom.: 0 Cov.: 32 AF XY: 0.0000403 AC XY: 3AN XY: 74502
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at