12-1955500-T-C
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBS1BS2
The NM_152640.5(DCP1B):āc.583A>Gā(p.Asn195Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0339 in 1,613,832 control chromosomes in the GnomAD database, including 1,112 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_152640.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DCP1B | NM_152640.5 | c.583A>G | p.Asn195Asp | missense_variant | 6/9 | ENST00000280665.11 | |
DCP1B | NR_135060.2 | n.735A>G | non_coding_transcript_exon_variant | 7/11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DCP1B | ENST00000280665.11 | c.583A>G | p.Asn195Asp | missense_variant | 6/9 | 1 | NM_152640.5 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0261 AC: 3974AN: 152178Hom.: 77 Cov.: 32
GnomAD3 exomes AF: 0.0256 AC: 6442AN: 251388Hom.: 122 AF XY: 0.0255 AC XY: 3469AN XY: 135864
GnomAD4 exome AF: 0.0348 AC: 50789AN: 1461536Hom.: 1035 Cov.: 31 AF XY: 0.0342 AC XY: 24893AN XY: 727080
GnomAD4 genome AF: 0.0261 AC: 3972AN: 152296Hom.: 77 Cov.: 32 AF XY: 0.0261 AC XY: 1945AN XY: 74466
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at