19-18879243-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_021267.5(CERS1):āc.898C>Gā(p.Leu300Val) variant causes a missense, splice region change. The variant allele was found at a frequency of 0.00000411 in 1,461,400 control chromosomes in the GnomAD database, with no homozygous occurrence. 3/3 splice prediction tools predict no significant impact on normal splicing. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. L300L) has been classified as Likely benign.
Frequency
Consequence
NM_021267.5 missense, splice_region
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
GDF1 | NM_001492.6 | c.-425C>G | splice_region_variant | Exon 5 of 8 | ENST00000247005.8 | NP_001483.3 | ||
CERS1 | NM_021267.5 | c.898C>G | p.Leu300Val | missense_variant, splice_region_variant | Exon 5 of 8 | ENST00000623882.4 | NP_067090.1 | |
GDF1 | NM_001492.6 | c.-425C>G | 5_prime_UTR_variant | Exon 5 of 8 | ENST00000247005.8 | NP_001483.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
GDF1 | ENST00000247005.8 | c.-425C>G | splice_region_variant | Exon 5 of 8 | 1 | NM_001492.6 | ENSP00000247005.5 | |||
CERS1 | ENST00000623882.4 | c.898C>G | p.Leu300Val | missense_variant, splice_region_variant | Exon 5 of 8 | 1 | NM_021267.5 | ENSP00000485308.1 | ||
GDF1 | ENST00000247005.8 | c.-425C>G | 5_prime_UTR_variant | Exon 5 of 8 | 1 | NM_001492.6 | ENSP00000247005.5 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome AF: 0.00000411 AC: 6AN: 1461400Hom.: 0 Cov.: 33 AF XY: 0.00000138 AC XY: 1AN XY: 726968
GnomAD4 genome Cov.: 31
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.