rs1714987
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_173625.5(C17orf78):āc.455C>Gā(p.Thr152Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.211 in 1,594,294 control chromosomes in the GnomAD database, including 40,578 homozygotes. In-silico tool predicts a benign outcome for this variant. 11/16 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_173625.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
C17orf78 | NM_173625.5 | c.455C>G | p.Thr152Ser | missense_variant | 4/7 | ENST00000615133.2 | |
ACACA | NM_198834.3 | c.38+20190G>C | intron_variant | ENST00000616317.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
C17orf78 | ENST00000615133.2 | c.455C>G | p.Thr152Ser | missense_variant | 4/7 | 1 | NM_173625.5 | P1 | |
ACACA | ENST00000616317.5 | c.38+20190G>C | intron_variant | 1 | NM_198834.3 |
Frequencies
GnomAD3 genomes ? AF: 0.228 AC: 34578AN: 151942Hom.: 4324 Cov.: 32
GnomAD3 exomes AF: 0.251 AC: 60489AN: 241222Hom.: 9058 AF XY: 0.248 AC XY: 32383AN XY: 130696
GnomAD4 exome AF: 0.209 AC: 301465AN: 1442234Hom.: 36240 Cov.: 31 AF XY: 0.212 AC XY: 152095AN XY: 717682
GnomAD4 genome ? AF: 0.228 AC: 34611AN: 152060Hom.: 4338 Cov.: 32 AF XY: 0.233 AC XY: 17315AN XY: 74324
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at