chr1-246544534-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_022366.3(TFB2M):c.1006A>G(p.Ile336Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000207 in 1,452,202 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_022366.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TFB2M | NM_022366.3 | c.1006A>G | p.Ile336Val | missense_variant | 7/8 | ENST00000366514.5 | |
TFB2M | XM_011544248.2 | c.703A>G | p.Ile235Val | missense_variant | 5/6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TFB2M | ENST00000366514.5 | c.1006A>G | p.Ile336Val | missense_variant | 7/8 | 1 | NM_022366.3 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD3 exomes AF: 0.00000826 AC: 2AN: 242112Hom.: 0 AF XY: 0.00000764 AC XY: 1AN XY: 130830
GnomAD4 exome AF: 0.00000207 AC: 3AN: 1452202Hom.: 0 Cov.: 31 AF XY: 0.00000277 AC XY: 2AN XY: 722132
GnomAD4 genome ? Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 30, 2022 | The c.1006A>G (p.I336V) alteration is located in exon 7 (coding exon 7) of the TFB2M gene. This alteration results from a A to G substitution at nucleotide position 1006, causing the isoleucine (I) at amino acid position 336 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