chr9-130452246-C-T
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 2P and 7B. PM2BP4_StrongBP6_ModerateBP7
The NM_054012.4(ASS1):c.18C>T(p.Ser6Ser) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000415 in 1,614,214 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 Likely benign (★). Synonymous variant affecting the same amino acid position (i.e. S6S) has been classified as Likely benign.
Frequency
Consequence
NM_054012.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000112 AC: 17AN: 152212Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000438 AC: 11AN: 251338Hom.: 0 AF XY: 0.0000515 AC XY: 7AN XY: 135874
GnomAD4 exome AF: 0.0000328 AC: 48AN: 1461884Hom.: 0 Cov.: 32 AF XY: 0.0000385 AC XY: 28AN XY: 727242
GnomAD4 genome AF: 0.000125 AC: 19AN: 152330Hom.: 0 Cov.: 32 AF XY: 0.000148 AC XY: 11AN XY: 74484
ClinVar
Submissions by phenotype
Citrullinemia Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at