chr11-62613611-TGGGGGGG-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_000327.4(ROM1):c.333_339del(p.Gly112SerfsTer8) variant causes a frameshift change. The variant allele was found at a frequency of 0.000168 in 1,580,936 control chromosomes in the GnomAD database, including 1 homozygotes. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. G111G) 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
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ROM1 | NM_000327.4 | c.333_339del | p.Gly112SerfsTer8 | frameshift_variant | 1/3 | ENST00000278833.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ROM1 | ENST00000278833.4 | c.333_339del | p.Gly112SerfsTer8 | frameshift_variant | 1/3 | 1 | NM_000327.4 | P1 | |
ROM1 | ENST00000525947.1 | c.-200_-194del | 5_prime_UTR_variant | 1/3 | 3 | ||||
ROM1 | ENST00000525801.1 | c.-38-644_-38-638del | intron_variant | 3 | |||||
ROM1 | ENST00000534093.5 | c.-38-644_-38-638del | intron_variant | 2 |
Frequencies
GnomAD3 genomes AF: 0.000133 AC: 20AN: 150742Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.000326 AC: 70AN: 214556Hom.: 0 AF XY: 0.000465 AC XY: 55AN XY: 118190
GnomAD4 exome AF: 0.000172 AC: 246AN: 1430078Hom.: 1 AF XY: 0.000250 AC XY: 178AN XY: 711384
GnomAD4 genome AF: 0.000133 AC: 20AN: 150858Hom.: 0 Cov.: 34 AF XY: 0.000217 AC XY: 16AN XY: 73676
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at