1-151365605-C-G
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM2PP3_Strong
The NM_003944.4(SELENBP1):c.1002G>C(p.Gln334His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000372 in 1,614,074 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_003944.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SELENBP1 | NM_003944.4 | c.1002G>C | p.Gln334His | missense_variant | Exon 9 of 12 | ENST00000368868.10 | NP_003935.2 | |
SELENBP1 | NM_001258289.2 | c.1128G>C | p.Gln376His | missense_variant | Exon 9 of 12 | NP_001245218.1 | ||
SELENBP1 | NM_001258288.2 | c.816G>C | p.Gln272His | missense_variant | Exon 8 of 11 | NP_001245217.1 | ||
SELENBP1 | XM_047433576.1 | c.949G>C | p.Val317Leu | missense_variant | Exon 8 of 9 | XP_047289532.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152192Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000795 AC: 2AN: 251424Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135888
GnomAD4 exome AF: 0.00000342 AC: 5AN: 1461882Hom.: 1 Cov.: 32 AF XY: 0.00000550 AC XY: 4AN XY: 727244
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152192Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74354
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1002G>C (p.Q334H) alteration is located in exon 9 (coding exon 9) of the SELENBP1 gene. This alteration results from a G to C substitution at nucleotide position 1002, causing the glutamine (Q) at amino acid position 334 to be replaced by a histidine (H). 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