NM_004415.4:c.939+132G>A
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_004415.4(DSP):c.939+132G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.284 in 1,247,782 control chromosomes in the GnomAD database, including 52,232 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_004415.4 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DSP | NM_004415.4 | c.939+132G>A | intron_variant | Intron 7 of 23 | ENST00000379802.8 | NP_004406.2 | ||
DSP | NM_001319034.2 | c.939+132G>A | intron_variant | Intron 7 of 23 | NP_001305963.1 | |||
DSP | NM_001008844.3 | c.939+132G>A | intron_variant | Intron 7 of 23 | NP_001008844.1 | |||
DSP | NM_001406591.1 | c.939+132G>A | intron_variant | Intron 7 of 10 | NP_001393520.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.268 AC: 40722AN: 151956Hom.: 5753 Cov.: 32
GnomAD4 exome AF: 0.286 AC: 313046AN: 1095708Hom.: 46473 Cov.: 14 AF XY: 0.285 AC XY: 157051AN XY: 551438
GnomAD4 genome AF: 0.268 AC: 40741AN: 152074Hom.: 5759 Cov.: 32 AF XY: 0.266 AC XY: 19782AN XY: 74348
ClinVar
Submissions by phenotype
not provided Benign:1
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at