NM_001042450.4:c.827G>C
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_001042450.4(SLC5A10):c.827G>C(p.Trp276Ser) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,622 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001042450.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SLC5A10 | ENST00000395645.4 | c.827G>C | p.Trp276Ser | missense_variant | Exon 8 of 15 | 1 | NM_001042450.4 | ENSP00000379007.3 | ||
FAM83G | ENST00000388995 | c.*160C>G | 3_prime_UTR_variant | Exon 6 of 6 | 5 | NM_001039999.3 | ENSP00000373647.5 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000401 AC: 1AN: 249642Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135126
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461622Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 727116
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.827G>C (p.W276S) alteration is located in exon 8 (coding exon 8) of the SLC5A10 gene. This alteration results from a G to C substitution at nucleotide position 827, causing the tryptophan (W) at amino acid position 276 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