15-32732607-G-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_013372.7(GREM1):c.*1362G>T variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000108 in 92,856 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_013372.7 3_prime_UTR
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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
GREM1 | NM_013372.7 | c.*1362G>T | 3_prime_UTR_variant | Exon 2 of 2 | ENST00000651154.1 | NP_037504.1 | ||
GREM1 | NM_001368719.1 | c.*1362G>T | 3_prime_UTR_variant | Exon 2 of 2 | NP_001355648.1 | |||
GREM1 | NM_001191323.2 | c.*1362G>T | 3_prime_UTR_variant | Exon 3 of 3 | NP_001178252.1 | |||
GREM1 | NM_001191322.2 | c.*1362G>T | 3_prime_UTR_variant | Exon 3 of 3 | NP_001178251.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
GREM1 | ENST00000651154.1 | c.*1362G>T | 3_prime_UTR_variant | Exon 2 of 2 | NM_013372.7 | ENSP00000498748.1 | ||||
GREM1 | ENST00000652365.1 | c.*1362G>T | 3_prime_UTR_variant | Exon 2 of 2 | ENSP00000498763.1 | |||||
GREM1 | ENST00000560830.1 | c.*1362G>T | 3_prime_UTR_variant | Exon 3 of 3 | 2 | ENSP00000453141.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.0000108 AC: 1AN: 92856Hom.: 0 Cov.: 0 AF XY: 0.00 AC XY: 0AN XY: 42996
GnomAD4 genome Cov.: 32
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.