1-44806068-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001377534.1(DYNLT4):c.601T>C(p.Ser201Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000742 in 1,602,932 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001377534.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000788 AC: 12AN: 152220Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000113 AC: 27AN: 239542Hom.: 0 AF XY: 0.0000916 AC XY: 12AN XY: 131042
GnomAD4 exome AF: 0.0000738 AC: 107AN: 1450712Hom.: 0 Cov.: 31 AF XY: 0.0000680 AC XY: 49AN XY: 720326
GnomAD4 genome AF: 0.0000788 AC: 12AN: 152220Hom.: 0 Cov.: 33 AF XY: 0.0000538 AC XY: 4AN XY: 74368
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.601T>C (p.S201P) alteration is located in exon 2 (coding exon 1) of the TCTEX1D4 gene. This alteration results from a T to C substitution at nucleotide position 601, causing the serine (S) at amino acid position 201 to be replaced by a proline (P). 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