rs769673154
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP6
The NM_001164507.2(NEB):c.17644C>T(p.Arg5882Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000121 in 1,573,156 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. R5882Q) has been classified as Likely benign.
Frequency
Consequence
NM_001164507.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NEB | NM_001164507.2 | c.17644C>T | p.Arg5882Trp | missense_variant | 112/182 | ENST00000427231.7 | |
NEB | NM_001164508.2 | c.17644C>T | p.Arg5882Trp | missense_variant | 112/182 | ENST00000397345.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NEB | ENST00000397345.8 | c.17644C>T | p.Arg5882Trp | missense_variant | 112/182 | 5 | NM_001164508.2 | P5 | |
NEB | ENST00000427231.7 | c.17644C>T | p.Arg5882Trp | missense_variant | 112/182 | 5 | NM_001164507.2 | A2 |
Frequencies
GnomAD3 genomes ? AF: 0.00000890 AC: 1AN: 112340Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000282 AC: 7AN: 248420Hom.: 0 AF XY: 0.0000297 AC XY: 4AN XY: 134772
GnomAD4 exome AF: 0.0000123 AC: 18AN: 1460816Hom.: 0 Cov.: 31 AF XY: 0.0000138 AC XY: 10AN XY: 726754
GnomAD4 genome ? AF: 0.00000890 AC: 1AN: 112340Hom.: 0 Cov.: 31 AF XY: 0.0000185 AC XY: 1AN XY: 53978
ClinVar
Submissions by phenotype
Nemaline myopathy 2 Uncertain:1Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Jan 22, 2024 | - - |
Uncertain significance, no assertion criteria provided | clinical testing | Natera, Inc. | Jan 24, 2020 | - - |
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Athena Diagnostics | Jun 09, 2016 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at