7-100477431-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_030935.5(TSC22D4):c.608G>A(p.Ser203Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000195 in 1,584,118 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_030935.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000788 AC: 12AN: 152260Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000554 AC: 12AN: 216534Hom.: 0 AF XY: 0.0000508 AC XY: 6AN XY: 118026
GnomAD4 exome AF: 0.000207 AC: 297AN: 1431858Hom.: 0 Cov.: 34 AF XY: 0.000214 AC XY: 152AN XY: 710480
GnomAD4 genome AF: 0.0000788 AC: 12AN: 152260Hom.: 0 Cov.: 32 AF XY: 0.0000538 AC XY: 4AN XY: 74394
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.608G>A (p.S203N) alteration is located in exon 2 (coding exon 1) of the TSC22D4 gene. This alteration results from a G to A substitution at nucleotide position 608, causing the serine (S) at amino acid position 203 to be replaced by an asparagine (N). 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