1-151776184-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001083965.2(TDRKH):c.1129G>A(p.Gly377Ser) variant causes a missense change. The variant allele was found at a frequency of 0.0000465 in 1,614,098 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts 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. G377D) has been classified as Uncertain significance.
Frequency
Consequence
NM_001083965.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000118 AC: 18AN: 152094Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000802 AC: 20AN: 249484Hom.: 0 AF XY: 0.0000443 AC XY: 6AN XY: 135356
GnomAD4 exome AF: 0.0000390 AC: 57AN: 1461886Hom.: 0 Cov.: 32 AF XY: 0.0000344 AC XY: 25AN XY: 727244
GnomAD4 genome AF: 0.000118 AC: 18AN: 152212Hom.: 0 Cov.: 32 AF XY: 0.0000537 AC XY: 4AN XY: 74446
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1129G>A (p.G377S) alteration is located in exon 8 (coding exon 7) of the TDRKH gene. This alteration results from a G to A substitution at nucleotide position 1129, causing the glycine (G) at amino acid position 377 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