rs1085307126
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM2PM5PP3_Moderate
The ENST00000377873.8(BFSP1):c.1042G>T(p.Asp348Tyr) variant causes a missense, splice region change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. 3/3 splice prediction tools predicting alterations to normal splicing. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. D348N) has been classified as Pathogenic.
Frequency
Consequence
ENST00000377873.8 missense, splice_region
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
BFSP1 | NM_001195.5 | c.1042G>T | p.Asp348Tyr | missense_variant, splice_region_variant | 7/8 | ENST00000377873.8 | NP_001186.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
BFSP1 | ENST00000377873.8 | c.1042G>T | p.Asp348Tyr | missense_variant, splice_region_variant | 7/8 | 1 | NM_001195.5 | ENSP00000367104 | P1 | |
BFSP1 | ENST00000377868.6 | c.667G>T | p.Asp223Tyr | missense_variant, splice_region_variant | 7/8 | 1 | ENSP00000367099 | |||
BFSP1 | ENST00000536626.7 | c.625G>T | p.Asp209Tyr | missense_variant, splice_region_variant | 8/9 | 2 | ENSP00000442522 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1380730Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 680922
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at