NM_001290403.2:c.813A>C
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_StrongBP6BP7
The NM_001290403.2(TAL1):āc.813A>Cā(p.Gly271Gly) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (no stars).
Frequency
Consequence
NM_001290403.2 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TAL1 | ENST00000691006.1 | c.813A>C | p.Gly271Gly | synonymous_variant | Exon 5 of 5 | NM_001290403.2 | ENSP00000510655.1 | |||
TAL1 | ENST00000294339.3 | c.813A>C | p.Gly271Gly | synonymous_variant | Exon 4 of 4 | 1 | ENSP00000294339.3 | |||
TAL1 | ENST00000371884.6 | c.813A>C | p.Gly271Gly | synonymous_variant | Exon 5 of 5 | 1 | ENSP00000360951.1 | |||
TAL1 | ENST00000459729.1 | n.581A>C | non_coding_transcript_exon_variant | Exon 3 of 3 | 1 |
Frequencies
GnomAD3 genomes AF: 0.00 AC: 0AN: 99798Hom.: 0 Cov.: 21 FAILED QC
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 389794Hom.: 0 Cov.: 5 AF XY: 0.00 AC XY: 0AN XY: 205034
GnomAD4 genome Data not reliable, filtered out with message: AC0;AS_VQSR AF: 0.00 AC: 0AN: 99798Hom.: 0 Cov.: 21 AF XY: 0.00 AC XY: 0AN XY: 47704
ClinVar
Submissions by phenotype
TAL1-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.