rs1429486273
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 0P and 1B. BP4
The NM_001164507.2(NEB):c.12977G>A(p.Arg4326His) variant causes a missense change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. 12/16 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R4326C) has been classified as Uncertain significance.
Frequency
Consequence
NM_001164507.2 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NEB | NM_001164507.2 | c.12977G>A | p.Arg4326His | missense_variant | 85/182 | ENST00000427231.7 | |
NEB | NM_001164508.2 | c.12977G>A | p.Arg4326His | missense_variant | 85/182 | ENST00000397345.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NEB | ENST00000397345.8 | c.12977G>A | p.Arg4326His | missense_variant | 85/182 | 5 | NM_001164508.2 | P5 | |
NEB | ENST00000427231.7 | c.12977G>A | p.Arg4326His | missense_variant | 85/182 | 5 | NM_001164507.2 | A2 | |
NEB | ENST00000409198.5 | c.11601+5167G>A | intron_variant | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 4
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000102 AC: 4AN: 391224Hom.: 0 Cov.: 0 AF XY: 0.0000195 AC XY: 4AN XY: 205342
GnomAD4 genome ? Cov.: 4
ClinVar
Submissions by phenotype
Nemaline myopathy 2 Uncertain:2
Uncertain significance, no assertion criteria provided | clinical testing | Natera, Inc. | Nov 11, 2019 | - - |
Uncertain significance, criteria provided, single submitter | clinical testing | Invitae | Jun 21, 2017 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at