X-77683151-T-C
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 1P and 4B. PP2BP4_ModerateBP6_Moderate
The NM_000489.6(ATRX):c.2105A>G(p.Asn702Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000538 in 1,208,778 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 19 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. 14/18 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. N702D) has been classified as Uncertain significance.
Frequency
Consequence
NM_000489.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ATRX | NM_000489.6 | c.2105A>G | p.Asn702Ser | missense_variant | 9/35 | ENST00000373344.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ATRX | ENST00000373344.11 | c.2105A>G | p.Asn702Ser | missense_variant | 9/35 | 1 | NM_000489.6 | P3 |
Frequencies
GnomAD3 genomes ? AF: 0.0000627 AC: 7AN: 111611Hom.: 0 Cov.: 23 AF XY: 0.0000296 AC XY: 1AN XY: 33799
GnomAD3 exomes AF: 0.0000219 AC: 4AN: 182540Hom.: 0 AF XY: 0.0000148 AC XY: 1AN XY: 67372
GnomAD4 exome AF: 0.0000529 AC: 58AN: 1097167Hom.: 0 Cov.: 33 AF XY: 0.0000496 AC XY: 18AN XY: 362621
GnomAD4 genome ? AF: 0.0000627 AC: 7AN: 111611Hom.: 0 Cov.: 23 AF XY: 0.0000296 AC XY: 1AN XY: 33799
ClinVar
Submissions by phenotype
Alpha thalassemia-X-linked intellectual disability syndrome Uncertain:1Benign:1
Uncertain significance, no assertion criteria provided | clinical testing | Natera, Inc. | Oct 28, 2019 | - - |
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Oct 18, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at