17-15999335-T-G
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_001042697.2(ZSWIM7):c.76+184A>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00546 in 780,030 control chromosomes in the GnomAD database, including 132 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_001042697.2 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ZSWIM7 | NM_001042697.2 | c.76+184A>C | intron_variant | Intron 1 of 4 | ENST00000399277.6 | NP_001036162.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0187 AC: 2848AN: 152238Hom.: 90 Cov.: 32
GnomAD3 exomes AF: 0.00429 AC: 412AN: 95984Hom.: 10 AF XY: 0.00342 AC XY: 178AN XY: 52094
GnomAD4 exome AF: 0.00223 AC: 1399AN: 627674Hom.: 42 Cov.: 8 AF XY: 0.00179 AC XY: 591AN XY: 329738
GnomAD4 genome AF: 0.0188 AC: 2858AN: 152356Hom.: 90 Cov.: 32 AF XY: 0.0185 AC XY: 1378AN XY: 74502
ClinVar
Submissions by phenotype
not provided Benign:2
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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