NM_001385641.1:c.610-65_610-3dupTTCCTCTCCTCCTGCCCCACCTTCCTCTCCTCCTGCCCCACCTTCCTCTCCTCCTGCCCCACC
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001385641.1(SAMD11):c.610-65_610-3dupTTCCTCTCCTCCTGCCCCACCTTCCTCTCCTCCTGCCCCACCTTCCTCTCCTCCTGCCCCACC variant causes a splice acceptor, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000066 in 151,428 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001385641.1 splice_acceptor, intron
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 |
---|---|---|---|---|---|---|---|---|
SAMD11 | NM_001385641.1 | c.610-65_610-3dupTTCCTCTCCTCCTGCCCCACCTTCCTCTCCTCCTGCCCCACCTTCCTCTCCTCCTGCCCCACC | splice_acceptor_variant, intron_variant | Intron 2 of 13 | ENST00000616016.5 | NP_001372570.1 | ||
SAMD11 | NM_001385640.1 | c.610-65_610-3dupTTCCTCTCCTCCTGCCCCACCTTCCTCTCCTCCTGCCCCACCTTCCTCTCCTCCTGCCCCACC | splice_acceptor_variant, intron_variant | Intron 2 of 13 | NP_001372569.1 | |||
SAMD11 | NM_152486.4 | c.73-65_73-3dupTTCCTCTCCTCCTGCCCCACCTTCCTCTCCTCCTGCCCCACCTTCCTCTCCTCCTGCCCCACC | splice_acceptor_variant, intron_variant | Intron 2 of 13 | NP_689699.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SAMD11 | ENST00000616016.5 | c.610-74_610-73insGCCCCACCTTCCTCTCCTCCTGCCCCACCTTCCTCTCCTCCTGCCCCACCTTCCTCTCCTCCT | intron_variant | Intron 2 of 13 | 5 | NM_001385641.1 | ENSP00000478421.2 |
Frequencies
GnomAD3 genomes AF: 0.00000660 AC: 1AN: 151428Hom.: 0 Cov.: 33
GnomAD4 genome AF: 0.00000660 AC: 1AN: 151428Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 73900
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at