chr2-149833000-C-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NR_110240.1(MMADHC-DT):n.536-14909C>G 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 0.0000198 in 151,868 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_110240.1 intron, non_coding_transcript
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MMADHC-DT | NR_110240.1 | n.536-14909C>G | intron_variant, non_coding_transcript_variant | ||||
LINC01931 | NR_145421.1 | n.1302+24451G>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MMADHC-DT | ENST00000655697.1 | n.244-14909C>G | intron_variant, non_coding_transcript_variant | ||||||
LINC01931 | ENST00000658047.1 | n.937+24451G>C | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.0000198 AC: 3AN: 151868Hom.: 0 Cov.: 32
GnomAD4 genome ? AF: 0.0000198 AC: 3AN: 151868Hom.: 0 Cov.: 32 AF XY: 0.0000270 AC XY: 2AN XY: 74146
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at