chr21-31124539-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001353694.2(TIAM1):c.4289C>T(p.Pro1430Leu) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000186 in 1,613,162 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Synonymous variant affecting the same amino acid position (i.e. P1430P) has been classified as Likely benign.
Frequency
Consequence
NM_001353694.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TIAM1 | NM_001353694.2 | c.4289C>T | p.Pro1430Leu | missense_variant | 27/28 | ENST00000541036.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TIAM1 | ENST00000541036.6 | c.4289C>T | p.Pro1430Leu | missense_variant | 27/28 | 5 | NM_001353694.2 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000197 AC: 3AN: 152160Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000279 AC: 7AN: 251296Hom.: 0 AF XY: 0.0000368 AC XY: 5AN XY: 135804
GnomAD4 exome AF: 0.0000185 AC: 27AN: 1461002Hom.: 0 Cov.: 30 AF XY: 0.0000206 AC XY: 15AN XY: 726822
GnomAD4 genome ? AF: 0.0000197 AC: 3AN: 152160Hom.: 0 Cov.: 32 AF XY: 0.0000404 AC XY: 3AN XY: 74326
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 16, 2024 | The c.4289C>T (p.P1430L) alteration is located in exon 28 (coding exon 24) of the TIAM1 gene. This alteration results from a C to T substitution at nucleotide position 4289, causing the proline (P) at amino acid position 1430 to be replaced by a leucine (L). 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