rs758077058
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001195.5(BFSP1):c.1738G>A(p.Ala580Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000479 in 1,461,818 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001195.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
BFSP1 | ENST00000377873.8 | c.1738G>A | p.Ala580Thr | missense_variant | Exon 8 of 8 | 1 | NM_001195.5 | ENSP00000367104.3 | ||
BFSP1 | ENST00000377868.6 | c.1363G>A | p.Ala455Thr | missense_variant | Exon 8 of 8 | 1 | ENSP00000367099.2 | |||
BFSP1 | ENST00000536626.7 | c.1321G>A | p.Ala441Thr | missense_variant | Exon 9 of 9 | 2 | ENSP00000442522.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251458Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135902
GnomAD4 exome AF: 0.00000479 AC: 7AN: 1461818Hom.: 0 Cov.: 49 AF XY: 0.00000550 AC XY: 4AN XY: 727216
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
The c.1738G>A (p.A580T) alteration is located in exon 8 (coding exon 8) of the BFSP1 gene. This alteration results from a G to A substitution at nucleotide position 1738, causing the alanine (A) at amino acid position 580 to be replaced by a threonine (T). 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