rs77081633
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_014739.3(BCLAF1):c.2272C>T(p.Pro758Ser) variant causes a missense change. The variant allele was found at a frequency of 0.000307 in 1,564,524 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. P758T) has been classified as Likely benign.
Frequency
Consequence
NM_014739.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
BCLAF1 | NM_014739.3 | c.2272C>T | p.Pro758Ser | missense_variant | 10/13 | ENST00000531224.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
BCLAF1 | ENST00000531224.6 | c.2272C>T | p.Pro758Ser | missense_variant | 10/13 | 1 | NM_014739.3 | P4 |
Frequencies
GnomAD3 genomes AF: 0.000290 AC: 44AN: 151778Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000254 AC: 59AN: 232134Hom.: 0 AF XY: 0.000263 AC XY: 33AN XY: 125338
GnomAD4 exome AF: 0.000308 AC: 435AN: 1412628Hom.: 0 Cov.: 31 AF XY: 0.000330 AC XY: 232AN XY: 703422
GnomAD4 genome AF: 0.000296 AC: 45AN: 151896Hom.: 0 Cov.: 32 AF XY: 0.000283 AC XY: 21AN XY: 74234
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Sep 14, 2021 | The c.2272C>T (p.P758S) alteration is located in exon 10 (coding exon 8) of the BCLAF1 gene. This alteration results from a C to T substitution at nucleotide position 2272, causing the proline (P) at amino acid position 758 to be replaced by a serine (S). 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