8-81693763-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001010893.3(SLC10A5):c.1210G>T(p.Ala404Ser) variant causes a missense change. The variant allele was found at a frequency of 0.0000979 in 1,613,934 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001010893.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000394 AC: 6AN: 152116Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000517 AC: 13AN: 251262Hom.: 0 AF XY: 0.0000368 AC XY: 5AN XY: 135792
GnomAD4 exome AF: 0.000104 AC: 152AN: 1461818Hom.: 0 Cov.: 31 AF XY: 0.0000811 AC XY: 59AN XY: 727208
GnomAD4 genome AF: 0.0000394 AC: 6AN: 152116Hom.: 0 Cov.: 32 AF XY: 0.0000538 AC XY: 4AN XY: 74302
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1210G>T (p.A404S) alteration is located in exon 1 (coding exon 1) of the SLC10A5 gene. This alteration results from a G to T substitution at nucleotide position 1210, causing the alanine (A) at amino acid position 404 to be replaced by a serine (S). 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