rs782556767
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP2
The NM_000489.6(ATRX):c.4031A>T(p.Lys1344Ile) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. K1344R) has been classified as Likely benign.
Frequency
Consequence
NM_000489.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ATRX | NM_000489.6 | c.4031A>T | p.Lys1344Ile | missense_variant | 12/35 | ENST00000373344.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ATRX | ENST00000373344.11 | c.4031A>T | p.Lys1344Ile | missense_variant | 12/35 | 1 | NM_000489.6 | P3 | |
ATRX | ENST00000395603.7 | c.3917A>T | p.Lys1306Ile | missense_variant | 11/34 | 1 | A2 | ||
ATRX | ENST00000624166.3 | c.3827A>T | p.Lys1276Ile | missense_variant | 12/14 | 1 | |||
ATRX | ENST00000480283.5 | c.*3659A>T | 3_prime_UTR_variant, NMD_transcript_variant | 13/36 | 1 |
Frequencies
GnomAD3 genomes ? Cov.: 23
GnomAD4 exome Cov.: 30
GnomAD4 genome ? Cov.: 23
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.