chr8-81694233-A-G
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_001010893.3(SLC10A5):āc.740T>Cā(p.Leu247Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000462 in 1,614,098 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001010893.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SLC10A5 | NM_001010893.3 | c.740T>C | p.Leu247Pro | missense_variant | 1/1 | ENST00000518568.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SLC10A5 | ENST00000518568.3 | c.740T>C | p.Leu247Pro | missense_variant | 1/1 | NM_001010893.3 | P1 |
Frequencies
GnomAD3 genomes AF: 0.000269 AC: 41AN: 152220Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000350 AC: 88AN: 251174Hom.: 0 AF XY: 0.000412 AC XY: 56AN XY: 135788
GnomAD4 exome AF: 0.000482 AC: 704AN: 1461878Hom.: 2 Cov.: 32 AF XY: 0.000473 AC XY: 344AN XY: 727240
GnomAD4 genome AF: 0.000269 AC: 41AN: 152220Hom.: 0 Cov.: 32 AF XY: 0.000229 AC XY: 17AN XY: 74368
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Sep 16, 2021 | The c.740T>C (p.L247P) alteration is located in exon 1 (coding exon 1) of the SLC10A5 gene. This alteration results from a T to C substitution at nucleotide position 740, causing the leucine (L) at amino acid position 247 to be replaced by a proline (P). 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