NM_032551.5:c.-4G>T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_032551.5(KISS1R):c.-4G>T 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 0.000000765 in 1,306,360 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_032551.5 5_prime_UTR_premature_start_codon_gain
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
KISS1R | NM_032551.5 | c.-4G>T | 5_prime_UTR_premature_start_codon_gain_variant | Exon 1 of 5 | ENST00000234371.10 | NP_115940.2 | ||
KISS1R | NM_032551.5 | c.-4G>T | 5_prime_UTR_variant | Exon 1 of 5 | ENST00000234371.10 | NP_115940.2 | ||
KISS1R | XM_047439545.1 | c.-4G>T | 5_prime_UTR_premature_start_codon_gain_variant | Exon 1 of 4 | XP_047295501.1 | |||
KISS1R | XM_047439545.1 | c.-4G>T | 5_prime_UTR_variant | Exon 1 of 4 | XP_047295501.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
KISS1R | ENST00000234371 | c.-4G>T | 5_prime_UTR_premature_start_codon_gain_variant | Exon 1 of 5 | 1 | NM_032551.5 | ENSP00000234371.3 | |||
KISS1R | ENST00000234371 | c.-4G>T | 5_prime_UTR_variant | Exon 1 of 5 | 1 | NM_032551.5 | ENSP00000234371.3 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 7.65e-7 AC: 1AN: 1306360Hom.: 0 Cov.: 30 AF XY: 0.00000156 AC XY: 1AN XY: 639760
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.