20-17494146-G-A
Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BA1
The NM_001195.5(BFSP1):c.1926C>T(p.Thr642Thr) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.272 in 1,613,746 control chromosomes in the GnomAD database, including 61,767 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_001195.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -21 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
BFSP1 | ENST00000377873.8 | c.1926C>T | p.Thr642Thr | synonymous_variant | Exon 8 of 8 | 1 | NM_001195.5 | ENSP00000367104.3 | ||
BFSP1 | ENST00000377868.6 | c.1551C>T | p.Thr517Thr | synonymous_variant | Exon 8 of 8 | 1 | ENSP00000367099.2 | |||
BFSP1 | ENST00000536626.7 | c.1509C>T | p.Thr503Thr | synonymous_variant | Exon 9 of 9 | 2 | ENSP00000442522.1 |
Frequencies
GnomAD3 genomes AF: 0.260 AC: 39460AN: 151940Hom.: 5323 Cov.: 33
GnomAD3 exomes AF: 0.245 AC: 61620AN: 251378Hom.: 8043 AF XY: 0.245 AC XY: 33231AN XY: 135878
GnomAD4 exome AF: 0.273 AC: 399063AN: 1461688Hom.: 56438 Cov.: 53 AF XY: 0.270 AC XY: 196693AN XY: 727158
GnomAD4 genome AF: 0.260 AC: 39485AN: 152058Hom.: 5329 Cov.: 33 AF XY: 0.257 AC XY: 19122AN XY: 74326
ClinVar
Submissions by phenotype
not provided Benign:2
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. -
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not specified Benign:1
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Cataract 33 Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at