chr10-72102365-G-A
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6BP7BS1BS2
The NM_001369096.1(ASCC1):c.1005C>T(p.Ile335Ile) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000132 in 1,549,608 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 (no stars).
Frequency
Consequence
NM_001369096.1 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ASCC1 | NM_001198800.3 | c.958-4915C>T | intron_variant | Intron 9 of 9 | ENST00000672957.1 | NP_001185729.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000857 AC: 13AN: 151632Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000152 AC: 23AN: 151044Hom.: 0 AF XY: 0.000210 AC XY: 17AN XY: 80926
GnomAD4 exome AF: 0.000137 AC: 191AN: 1397976Hom.: 0 Cov.: 31 AF XY: 0.000157 AC XY: 108AN XY: 689510
GnomAD4 genome AF: 0.0000857 AC: 13AN: 151632Hom.: 0 Cov.: 32 AF XY: 0.000108 AC XY: 8AN XY: 74108
ClinVar
Submissions by phenotype
ASCC1-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at