rs72547507
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_003049.4(SLC10A1):c.836T>C(p.Ile279Thr) variant causes a missense change. The variant allele was found at a frequency of 0.000139 in 1,614,118 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 (★). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_003049.4 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 |
---|---|---|---|---|---|---|---|
SLC10A1 | NM_003049.4 | c.836T>C | p.Ile279Thr | missense_variant | 4/5 | ENST00000216540.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SLC10A1 | ENST00000216540.5 | c.836T>C | p.Ile279Thr | missense_variant | 4/5 | 1 | NM_003049.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000289 AC: 44AN: 152190Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.000135 AC: 34AN: 251330Hom.: 0 AF XY: 0.000118 AC XY: 16AN XY: 135834
GnomAD4 exome AF: 0.000123 AC: 180AN: 1461810Hom.: 0 Cov.: 31 AF XY: 0.000110 AC XY: 80AN XY: 727210
GnomAD4 genome ? AF: 0.000289 AC: 44AN: 152308Hom.: 0 Cov.: 31 AF XY: 0.000242 AC XY: 18AN XY: 74482
ClinVar
Submissions by phenotype
not provided Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Eurofins Ntd Llc (ga) | Mar 27, 2018 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at