rs782630348
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP6BS2
The NM_000489.6(ATRX):c.4359_4361del(p.Glu1464del) variant causes a inframe deletion change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000059 in 1,202,608 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 21 hemizygotes in GnomAD. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars). Synonymous variant affecting the same amino acid position (i.e. E1453E) has been classified as Likely benign.
Frequency
Consequence
NM_000489.6 inframe_deletion
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ATRX | NM_000489.6 | c.4359_4361del | p.Glu1464del | inframe_deletion | 15/35 | ENST00000373344.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ATRX | ENST00000373344.11 | c.4359_4361del | p.Glu1464del | inframe_deletion | 15/35 | 1 | NM_000489.6 | P3 | |
ATRX | ENST00000395603.7 | c.4245_4247del | p.Glu1426del | inframe_deletion | 14/34 | 1 | A2 | ||
ATRX | ENST00000480283.5 | c.*3987_*3989del | 3_prime_UTR_variant, NMD_transcript_variant | 16/36 | 1 | ||||
ATRX | ENST00000623242.3 | upstream_gene_variant | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.0000543 AC: 6AN: 110418Hom.: 0 Cov.: 21 AF XY: 0.0000306 AC XY: 1AN XY: 32674
GnomAD3 exomes AF: 0.0000663 AC: 12AN: 180870Hom.: 0 AF XY: 0.0000604 AC XY: 4AN XY: 66240
GnomAD4 exome AF: 0.0000595 AC: 65AN: 1092190Hom.: 0 AF XY: 0.0000557 AC XY: 20AN XY: 358820
GnomAD4 genome ? AF: 0.0000543 AC: 6AN: 110418Hom.: 0 Cov.: 21 AF XY: 0.0000306 AC XY: 1AN XY: 32674
ClinVar
Submissions by phenotype
not provided Uncertain:1Benign:1
Uncertain significance, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Mar 01, 2018 | - - |
Benign, criteria provided, single submitter | clinical testing | GeneDx | Dec 18, 2020 | This variant is associated with the following publications: (PMID: 32156473) - |
Alpha thalassemia-X-linked intellectual disability syndrome Benign:2
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Dec 21, 2023 | - - |
Likely benign, criteria provided, single submitter | clinical testing | Institute of Human Genetics, University of Leipzig Medical Center | Jan 01, 2019 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at