6-54349791-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_014464.4(TINAG):c.975G>T(p.Arg325Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000641 in 1,606,712 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 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 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TINAG | NM_014464.4 | c.975G>T | p.Arg325Ser | missense_variant | 7/11 | ENST00000259782.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TINAG | ENST00000259782.9 | c.975G>T | p.Arg325Ser | missense_variant | 7/11 | 1 | NM_014464.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000263 AC: 4AN: 151956Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000364 AC: 9AN: 247014Hom.: 0 AF XY: 0.0000374 AC XY: 5AN XY: 133570
GnomAD4 exome AF: 0.0000681 AC: 99AN: 1454756Hom.: 0 Cov.: 30 AF XY: 0.0000663 AC XY: 48AN XY: 723672
GnomAD4 genome ? AF: 0.0000263 AC: 4AN: 151956Hom.: 0 Cov.: 32 AF XY: 0.0000404 AC XY: 3AN XY: 74192
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jul 27, 2021 | The c.975G>T (p.R325S) alteration is located in exon 7 (coding exon 7) of the TINAG gene. This alteration results from a G to T substitution at nucleotide position 975, causing the arginine (R) at amino acid position 325 to be replaced by a serine (S). 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