rs781820607
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP6_ModerateBS2
The NM_000489.6(ATRX):c.5698-7del variant causes a splice region, splice polypyrimidine tract, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000702 in 1,139,737 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 17 hemizygotes in GnomAD. 1/1 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_000489.6 splice_region, splice_polypyrimidine_tract, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ATRX | NM_000489.6 | c.5698-7del | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | ENST00000373344.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ATRX | ENST00000373344.11 | c.5698-7del | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | 1 | NM_000489.6 | P3 |
Frequencies
GnomAD3 genomes AF: 0.0000372 AC: 4AN: 107639Hom.: 0 Cov.: 22 AF XY: 0.00 AC XY: 0AN XY: 30957
GnomAD4 exome AF: 0.0000736 AC: 76AN: 1032098Hom.: 0 Cov.: 26 AF XY: 0.0000541 AC XY: 17AN XY: 314420
GnomAD4 genome AF: 0.0000372 AC: 4AN: 107639Hom.: 0 Cov.: 22 AF XY: 0.00 AC XY: 0AN XY: 30957
ClinVar
Submissions by phenotype
Alpha thalassemia-X-linked intellectual disability syndrome Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 11, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at