chr6-53944181-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NR_125842.1(LOC101927189):n.296+13904C>T variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000289 in 152,000 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
NR_125842.1 intron, non_coding_transcript
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
LOC101927189 | NR_125842.1 | n.296+13904C>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MLIP | ENST00000431554.2 | n.232+13904C>T | intron_variant, non_coding_transcript_variant | 1 | |||||
MLIP | ENST00000505762.1 | c.57+13904C>T | intron_variant | 3 | |||||
MLIP | ENST00000511369.5 | n.256+13904C>T | intron_variant, non_coding_transcript_variant | 4 |
Frequencies
GnomAD3 genomes AF: 0.000296 AC: 45AN: 151882Hom.: 0 Cov.: 32
GnomAD4 genome AF: 0.000289 AC: 44AN: 152000Hom.: 0 Cov.: 32 AF XY: 0.000336 AC XY: 25AN XY: 74302
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at