NM_000327.4:c.338_339dupGG
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_000327.4(ROM1):c.338_339dupGG(p.Leu114GlyfsTer9) variant causes a frameshift change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000253 in 1,580,802 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. L114L) has been classified as Likely benign. Variant results in nonsense mediated mRNA decay.
Frequency
Consequence
NM_000327.4 frameshift
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ROM1 | ENST00000278833.4 | c.338_339dupGG | p.Leu114GlyfsTer9 | frameshift_variant | Exon 1 of 3 | 1 | NM_000327.4 | ENSP00000278833.3 | ||
ROM1 | ENST00000525947 | c.-195_-194dupGG | 5_prime_UTR_variant | Exon 1 of 3 | 3 | ENSP00000432983.1 | ||||
ROM1 | ENST00000534093.5 | c.-38-639_-38-638dupGG | intron_variant | Intron 1 of 2 | 2 | ENSP00000432151.1 | ||||
ROM1 | ENST00000525801.1 | c.-38-639_-38-638dupGG | intron_variant | Intron 1 of 1 | 3 | ENSP00000433566.1 |
Frequencies
GnomAD3 genomes AF: 0.00000663 AC: 1AN: 150742Hom.: 0 Cov.: 34
GnomAD4 exome AF: 0.00000210 AC: 3AN: 1430060Hom.: 0 Cov.: 77 AF XY: 0.00000281 AC XY: 2AN XY: 711376
GnomAD4 genome AF: 0.00000663 AC: 1AN: 150742Hom.: 0 Cov.: 34 AF XY: 0.0000136 AC XY: 1AN XY: 73548
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at