chr17-30222880-G-C
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001045.6(SLC6A4):c.-185C>G variant causes a 5 prime UTR premature start codon gain change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000385 in 1,300,092 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_001045.6 5_prime_UTR_premature_start_codon_gain
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SLC6A4 | NM_001045.6 | c.-185C>G | 5_prime_UTR_premature_start_codon_gain_variant | 2/15 | ENST00000650711.1 | NP_001036.1 | ||
SLC6A4 | NM_001045.6 | c.-185C>G | 5_prime_UTR_variant | 2/15 | ENST00000650711.1 | NP_001036.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SLC6A4 | ENST00000650711.1 | c.-185C>G | 5_prime_UTR_premature_start_codon_gain_variant | 2/15 | NM_001045.6 | ENSP00000498537.1 | ||||
SLC6A4 | ENST00000650711.1 | c.-185C>G | 5_prime_UTR_variant | 2/15 | NM_001045.6 | ENSP00000498537.1 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152136Hom.: 0 Cov.: 33
GnomAD4 exome AF: 0.00000348 AC: 4AN: 1147838Hom.: 0 Cov.: 24 AF XY: 0.00000710 AC XY: 4AN XY: 563152
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152254Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74448
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at