2-131500342-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The ENST00000438378.2(SMPD4BP):n.638A>G variant causes a non coding transcript exon change. The variant allele was found at a frequency of 0.000000698 in 1,432,186 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
ENST00000438378.2 non_coding_transcript_exon
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SMPD4BP | NR_026922.1 | n.638A>G | non_coding_transcript_exon_variant | Exon 4 of 18 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SMPD4BP | ENST00000438378.2 | n.638A>G | non_coding_transcript_exon_variant | Exon 4 of 18 | 1 | |||||
SMPD4BP | ENST00000415574.6 | n.638A>G | non_coding_transcript_exon_variant | Exon 4 of 19 | 6 | |||||
SMPD4BP | ENST00000685161.1 | n.288A>G | non_coding_transcript_exon_variant | Exon 3 of 3 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.98e-7 AC: 1AN: 1432186Hom.: 0 Cov.: 32 AF XY: 0.00000141 AC XY: 1AN XY: 708968
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.