rs757455246
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_004320.6(ATP2A1):c.1765-4C>A variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000711 in 1,406,702 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_004320.6 splice_region, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ATP2A1 | NM_004320.6 | c.1765-4C>A | splice_region_variant, intron_variant | Intron 14 of 22 | ENST00000395503.9 | NP_004311.1 | ||
ATP2A1 | NM_173201.5 | c.1765-4C>A | splice_region_variant, intron_variant | Intron 14 of 21 | NP_775293.1 | |||
ATP2A1 | NM_001286075.2 | c.1390-4C>A | splice_region_variant, intron_variant | Intron 12 of 20 | NP_001273004.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ATP2A1 | ENST00000395503.9 | c.1765-4C>A | splice_region_variant, intron_variant | Intron 14 of 22 | 1 | NM_004320.6 | ENSP00000378879.5 | |||
ATP2A1 | ENST00000357084.7 | c.1765-4C>A | splice_region_variant, intron_variant | Intron 14 of 21 | 2 | ENSP00000349595.3 | ||||
ATP2A1 | ENST00000536376.5 | c.1390-4C>A | splice_region_variant, intron_variant | Intron 12 of 20 | 2 | ENSP00000443101.1 | ||||
ATP2A1 | ENST00000564732.1 | n.*408-4C>A | splice_region_variant, intron_variant | Intron 6 of 6 | 5 | ENSP00000457357.1 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome AF: 7.11e-7 AC: 1AN: 1406702Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 691858
GnomAD4 genome Cov.: 31
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.