rs17139617
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_000052.7(ATP7A):c.2627-882C>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.266 in 111,365 control chromosomes in the GnomAD database, including 3,058 homozygotes. There are 8,856 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_000052.7 intron
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 |
---|---|---|---|---|---|---|---|
ATP7A | NM_000052.7 | c.2627-882C>A | intron_variant | ENST00000341514.11 | |||
ATP7A | NM_001282224.2 | c.2393-882C>A | intron_variant | ||||
ATP7A | NR_104109.2 | n.285-12038C>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ATP7A | ENST00000341514.11 | c.2627-882C>A | intron_variant | 1 | NM_000052.7 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.265 AC: 29551AN: 111311Hom.: 3059 Cov.: 22 AF XY: 0.264 AC XY: 8841AN XY: 33521
GnomAD4 genome ? AF: 0.266 AC: 29570AN: 111365Hom.: 3058 Cov.: 22 AF XY: 0.264 AC XY: 8856AN XY: 33585
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at