chr19-39515436-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_182704.2(SELENOV):c.224C>T(p.Thr75Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000838 in 1,551,536 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/18 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_182704.2 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SELENOV | NM_182704.2 | c.224C>T | p.Thr75Ile | missense_variant | Exon 1 of 6 | ENST00000335426.9 | NP_874363.1 | |
SELENOV | NM_001350809.1 | c.224C>T | p.Thr75Ile | missense_variant | Exon 1 of 5 | NP_001337738.1 | ||
SELENOV | NR_146916.2 | n.14C>T | non_coding_transcript_exon_variant | Exon 1 of 4 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000592 AC: 9AN: 152152Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.00000648 AC: 1AN: 154416Hom.: 0 AF XY: 0.0000122 AC XY: 1AN XY: 81748
GnomAD4 exome AF: 0.00000286 AC: 4AN: 1399384Hom.: 0 Cov.: 32 AF XY: 0.00000290 AC XY: 2AN XY: 690218
GnomAD4 genome AF: 0.0000592 AC: 9AN: 152152Hom.: 0 Cov.: 31 AF XY: 0.0000673 AC XY: 5AN XY: 74312
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.224C>T (p.T75I) alteration is located in exon 1 (coding exon 1) of the SELV gene. This alteration results from a C to T substitution at nucleotide position 224, causing the threonine (T) at amino acid position 75 to be replaced by an isoleucine (I). 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