2-151546365-G-C
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 2P and 16B. PM2BP4_StrongBP6_Very_StrongBS1
The NM_001164507.2(NEB):c.20446C>G(p.Arg6816Gly) variant causes a missense change. The variant allele was found at a frequency of 0.000093 in 1,612,678 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. R6816Q) has been classified as Likely benign.
Frequency
Consequence
NM_001164507.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NEB | NM_001164507.2 | c.20446C>G | p.Arg6816Gly | missense_variant | 134/182 | ENST00000427231.7 | |
NEB | NM_001164508.2 | c.20446C>G | p.Arg6816Gly | missense_variant | 134/182 | ENST00000397345.8 | |
LOC124906081 | XR_007087266.1 | n.5990-955G>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NEB | ENST00000397345.8 | c.20446C>G | p.Arg6816Gly | missense_variant | 134/182 | 5 | NM_001164508.2 | P5 | |
NEB | ENST00000427231.7 | c.20446C>G | p.Arg6816Gly | missense_variant | 134/182 | 5 | NM_001164507.2 | A2 |
Frequencies
GnomAD3 genomes ? AF: 0.0000263 AC: 4AN: 152126Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000509 AC: 126AN: 247542Hom.: 1 AF XY: 0.000380 AC XY: 51AN XY: 134258
GnomAD4 exome AF: 0.000100 AC: 146AN: 1460434Hom.: 0 Cov.: 31 AF XY: 0.0000826 AC XY: 60AN XY: 726452
GnomAD4 genome ? AF: 0.0000263 AC: 4AN: 152244Hom.: 0 Cov.: 32 AF XY: 0.0000403 AC XY: 3AN XY: 74434
ClinVar
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | GeneDx | Feb 05, 2021 | - - |
Nemaline myopathy 2 Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Jan 29, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at