rs765940770
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP6
The NM_001164507.2(NEB):āc.8968A>Gā(p.Arg2990Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000169 in 1,542,836 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars). Synonymous variant affecting the same amino acid position (i.e. R2990R) 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.8968A>G | p.Arg2990Gly | missense_variant | 63/182 | ENST00000427231.7 | |
NEB | NM_001164508.2 | c.8968A>G | p.Arg2990Gly | missense_variant | 63/182 | ENST00000397345.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NEB | ENST00000397345.8 | c.8968A>G | p.Arg2990Gly | missense_variant | 63/182 | 5 | NM_001164508.2 | P5 | |
NEB | ENST00000427231.7 | c.8968A>G | p.Arg2990Gly | missense_variant | 63/182 | 5 | NM_001164507.2 | A2 | |
NEB | ENST00000409198.5 | c.8853+587A>G | intron_variant | 5 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152228Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000137 AC: 21AN: 153302Hom.: 0 AF XY: 0.0000863 AC XY: 7AN XY: 81102
GnomAD4 exome AF: 0.0000165 AC: 23AN: 1390608Hom.: 0 Cov.: 30 AF XY: 0.0000117 AC XY: 8AN XY: 686256
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152228Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74370
ClinVar
Submissions by phenotype
Nemaline myopathy 2 Uncertain:1Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 27, 2024 | - - |
Uncertain significance, no assertion criteria provided | clinical testing | Natera, Inc. | Nov 11, 2019 | - - |
not provided Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Revvity Omics, Revvity | Jan 27, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at