rs2977020
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 0P and 2B. BP4_Moderate
The NM_144651.5(PXDNL):c.2941A>T(p.Met981Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. 15/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. M981V) has been classified as Benign.
Frequency
Consequence
NM_144651.5 missense
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 |
---|---|---|---|---|---|---|---|
PXDNL | NM_144651.5 | c.2941A>T | p.Met981Leu | missense_variant | 17/23 | ENST00000356297.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PXDNL | ENST00000356297.5 | c.2941A>T | p.Met981Leu | missense_variant | 17/23 | 1 | NM_144651.5 | P1 | |
PXDNL | ENST00000522933.5 | c.298A>T | p.Met100Leu | missense_variant | 1/6 | 5 | |||
PXDNL | ENST00000522628.5 | c.739A>T | p.Met247Leu | missense_variant, NMD_transcript_variant | 1/5 | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.00000455 AC: 1AN: 219862Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 119198
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 6.93e-7 AC: 1AN: 1443976Hom.: 0 Cov.: 79 AF XY: 0.00 AC XY: 0AN XY: 716774
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at