rs201672777
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_004415.4(DSP):āc.946A>Cā(p.Met316Leu) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000000685 in 1,460,898 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. M316V) has been classified as Uncertain significance.
Frequency
Consequence
NM_004415.4 missense
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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DSP | NM_004415.4 | c.946A>C | p.Met316Leu | missense_variant | 8/24 | ENST00000379802.8 | |
DSP | NM_001319034.2 | c.946A>C | p.Met316Leu | missense_variant | 8/24 | ||
DSP | NM_001008844.3 | c.946A>C | p.Met316Leu | missense_variant | 8/24 | ||
DSP | NM_001406591.1 | c.946A>C | p.Met316Leu | missense_variant | 8/11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DSP | ENST00000379802.8 | c.946A>C | p.Met316Leu | missense_variant | 8/24 | 1 | NM_004415.4 | P2 | |
DSP | ENST00000418664.2 | c.946A>C | p.Met316Leu | missense_variant | 8/24 | 1 | A2 | ||
DSP | ENST00000710359.1 | c.946A>C | p.Met316Leu | missense_variant | 8/24 | A2 | |||
DSP | ENST00000682228.1 | n.270A>C | non_coding_transcript_exon_variant | 2/3 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1460898Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 726800
GnomAD4 genome ? Cov.: 33
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.