rs767415886
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 4P and 1B. PM1PM2BP6
The NM_001130987.2(DYSF):c.1711C>T(p.Arg571Cys) variant causes a missense change. The variant allele was found at a frequency of 0.0000435 in 1,607,764 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R571H) has been classified as Uncertain significance.
Frequency
Consequence
NM_001130987.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DYSF | NM_001130987.2 | c.1711C>T | p.Arg571Cys | missense_variant | 19/56 | ENST00000410020.8 | |
DYSF | NM_003494.4 | c.1657C>T | p.Arg553Cys | missense_variant | 19/55 | ENST00000258104.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DYSF | ENST00000410020.8 | c.1711C>T | p.Arg571Cys | missense_variant | 19/56 | 1 | NM_001130987.2 | A1 | |
DYSF | ENST00000258104.8 | c.1657C>T | p.Arg553Cys | missense_variant | 19/55 | 1 | NM_003494.4 | A1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000526 AC: 8AN: 152178Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000586 AC: 14AN: 238912Hom.: 0 AF XY: 0.0000701 AC XY: 9AN XY: 128470
GnomAD4 exome AF: 0.0000426 AC: 62AN: 1455586Hom.: 0 Cov.: 31 AF XY: 0.0000442 AC XY: 32AN XY: 723192
GnomAD4 genome ? AF: 0.0000526 AC: 8AN: 152178Hom.: 0 Cov.: 33 AF XY: 0.0000269 AC XY: 2AN XY: 74340
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Athena Diagnostics | Oct 20, 2016 | - - |
not provided Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Eurofins Ntd Llc (ga) | Jul 25, 2016 | - - |
Autosomal recessive limb-girdle muscular dystrophy type 2B Uncertain:1
Uncertain significance, no assertion criteria provided | clinical testing | Natera, Inc. | Mar 17, 2020 | - - |
Qualitative or quantitative defects of dysferlin Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Dec 28, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at