15-48134922-T-C
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_205850.3(SLC24A5):āc.528T>Cā(p.Cys176Cys) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000685 in 1,460,362 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_205850.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SLC24A5 | ENST00000341459.8 | c.528T>C | p.Cys176Cys | synonymous_variant | Exon 5 of 9 | 1 | NM_205850.3 | ENSP00000341550.3 | ||
SLC24A5 | ENST00000449382.2 | c.348T>C | p.Cys116Cys | synonymous_variant | Exon 4 of 8 | 1 | ENSP00000389966.2 | |||
MYEF2 | ENST00000324324 | c.*7986A>G | 3_prime_UTR_variant | Exon 17 of 17 | 1 | NM_016132.5 | ENSP00000316950.7 | |||
SLC24A5 | ENST00000463289.1 | n.288T>C | non_coding_transcript_exon_variant | Exon 4 of 5 | 3 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1460362Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 726370
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at