1-151364625-A-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_003944.4(SELENBP1):c.1337T>A(p.Phe446Tyr) variant causes a missense change. The variant allele was found at a frequency of 0.0000031 in 1,613,606 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_003944.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SELENBP1 | NM_003944.4 | c.1337T>A | p.Phe446Tyr | missense_variant | Exon 12 of 12 | ENST00000368868.10 | NP_003935.2 | |
SELENBP1 | NM_001258289.2 | c.1463T>A | p.Phe488Tyr | missense_variant | Exon 12 of 12 | NP_001245218.1 | ||
SELENBP1 | NM_001258288.2 | c.1151T>A | p.Phe384Tyr | missense_variant | Exon 11 of 11 | NP_001245217.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152166Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1461440Hom.: 0 Cov.: 31 AF XY: 0.00000413 AC XY: 3AN XY: 727024
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152166Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74326
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1337T>A (p.F446Y) alteration is located in exon 12 (coding exon 12) of the SELENBP1 gene. This alteration results from a T to A substitution at nucleotide position 1337, causing the phenylalanine (F) at amino acid position 446 to be replaced by a tyrosine (Y). 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