rs546679270
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 4P and 2B. PM2PM5BP6_Moderate
The ENST00000410020.8(DYSF):c.1799G>A(p.Arg600Gln) variant causes a missense change. The variant allele was found at a frequency of 0.000028 in 1,604,684 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R600L) has been classified as Likely benign.
Frequency
Consequence
ENST00000410020.8 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/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DYSF | NM_001130987.2 | c.1799G>A | p.Arg600Gln | missense_variant | 19/56 | ENST00000410020.8 | NP_001124459.1 | |
DYSF | NM_003494.4 | c.1745G>A | p.Arg582Gln | missense_variant | 19/55 | ENST00000258104.8 | NP_003485.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DYSF | ENST00000410020.8 | c.1799G>A | p.Arg600Gln | missense_variant | 19/56 | 1 | NM_001130987.2 | ENSP00000386881 | A1 | |
DYSF | ENST00000258104.8 | c.1745G>A | p.Arg582Gln | missense_variant | 19/55 | 1 | NM_003494.4 | ENSP00000258104 | A1 |
Frequencies
GnomAD3 genomes AF: 0.0000394 AC: 6AN: 152122Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000558 AC: 13AN: 232938Hom.: 0 AF XY: 0.0000880 AC XY: 11AN XY: 125020
GnomAD4 exome AF: 0.0000269 AC: 39AN: 1452444Hom.: 0 Cov.: 31 AF XY: 0.0000374 AC XY: 27AN XY: 721256
GnomAD4 genome AF: 0.0000394 AC: 6AN: 152240Hom.: 0 Cov.: 33 AF XY: 0.0000403 AC XY: 3AN XY: 74434
ClinVar
Submissions by phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2B Uncertain:1
Uncertain significance, no assertion criteria provided | clinical testing | Natera, Inc. | Mar 11, 2020 | - - |
Qualitative or quantitative defects of dysferlin Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Oct 29, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at