1-47225677-G-A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 0P and 2B. BP4_Moderate
The NM_001290403.2(TAL1):c.212C>T(p.Ala71Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000127 in 1,419,570 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. A71P) has been classified as Uncertain significance.
Frequency
Consequence
NM_001290403.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TAL1 | NM_001290403.2 | c.212C>T | p.Ala71Val | missense_variant | 3/5 | ENST00000691006.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TAL1 | ENST00000691006.1 | c.212C>T | p.Ala71Val | missense_variant | 3/5 | NM_001290403.2 | P1 | ||
TAL1 | ENST00000294339.3 | c.212C>T | p.Ala71Val | missense_variant | 2/4 | 1 | P1 | ||
TAL1 | ENST00000371884.6 | c.212C>T | p.Ala71Val | missense_variant | 3/5 | 1 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00000658 AC: 1AN: 151904Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.0000134 AC: 17AN: 1267666Hom.: 0 Cov.: 33 AF XY: 0.0000128 AC XY: 8AN XY: 622834
GnomAD4 genome ? AF: 0.00000658 AC: 1AN: 151904Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74186
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 27, 2022 | The c.212C>T (p.A71V) alteration is located in exon 2 (coding exon 1) of the TAL1 gene. This alteration results from a C to T substitution at nucleotide position 212, causing the alanine (A) at amino acid position 71 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at