rs6644635
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_001171038.2(ASMT):c.-99T>A variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00001 in 998,184 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 6 hemizygotes in GnomAD. 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_001171038.2 5_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ASMT | NM_001171038.2 | c.-99T>A | 5_prime_UTR_variant | 1/9 | ENST00000381241.9 | ||
ASMT | NM_001416525.1 | c.-99T>A | 5_prime_UTR_variant | 1/8 | |||
ASMT | NM_001171039.1 | upstream_gene_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ASMT | ENST00000381241.9 | c.-99T>A | 5_prime_UTR_variant | 1/9 | 1 | NM_001171038.2 |
Frequencies
GnomAD3 genomes ? AF: 0.0000132 AC: 2AN: 151854Hom.: 0 Cov.: 31 AF XY: 0.0000135 AC XY: 1AN XY: 74148
GnomAD4 exome AF: 0.00000945 AC: 8AN: 846330Hom.: 0 Cov.: 11 AF XY: 0.0000115 AC XY: 5AN XY: 436534
GnomAD4 genome ? AF: 0.0000132 AC: 2AN: 151854Hom.: 0 Cov.: 31 AF XY: 0.0000135 AC XY: 1AN XY: 74148
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at