chr6-54347489-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_014464.4(TINAG):c.871A>G(p.Arg291Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000265 in 1,613,100 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_014464.4 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 |
---|---|---|---|---|---|---|---|
TINAG | NM_014464.4 | c.871A>G | p.Arg291Gly | missense_variant | 6/11 | ENST00000259782.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TINAG | ENST00000259782.9 | c.871A>G | p.Arg291Gly | missense_variant | 6/11 | 1 | NM_014464.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000138 AC: 21AN: 152054Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000183 AC: 46AN: 250736Hom.: 0 AF XY: 0.000185 AC XY: 25AN XY: 135492
GnomAD4 exome AF: 0.000279 AC: 407AN: 1460928Hom.: 0 Cov.: 30 AF XY: 0.000230 AC XY: 167AN XY: 726794
GnomAD4 genome ? AF: 0.000138 AC: 21AN: 152172Hom.: 0 Cov.: 32 AF XY: 0.000121 AC XY: 9AN XY: 74414
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 23, 2024 | The c.871A>G (p.R291G) alteration is located in exon 6 (coding exon 6) of the TINAG gene. This alteration results from a A to G substitution at nucleotide position 871, causing the arginine (R) at amino acid position 291 to be replaced by a glycine (G). 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