rs1216367965
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 0P and 3B. BP4_ModerateBP6
The NM_001164507.2(NEB):c.13706G>A(p.Arg4569His) variant causes a missense change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. 13/17 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars). Synonymous variant affecting the same amino acid position (i.e. R4569R) has been classified as Likely benign.
Frequency
Consequence
NM_001164507.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NEB | NM_001164507.2 | c.13706G>A | p.Arg4569His | missense_variant | 89/182 | ENST00000427231.7 | |
NEB | NM_001164508.2 | c.13706G>A | p.Arg4569His | missense_variant | 89/182 | ENST00000397345.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NEB | ENST00000397345.8 | c.13706G>A | p.Arg4569His | missense_variant | 89/182 | 5 | NM_001164508.2 | P5 | |
NEB | ENST00000427231.7 | c.13706G>A | p.Arg4569His | missense_variant | 89/182 | 5 | NM_001164507.2 | A2 | |
NEB | ENST00000409198.5 | c.11601+9285G>A | intron_variant | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 0
GnomAD4 exome AF: 0.000263 AC: 1AN: 3802Hom.: 0 Cov.: 0 AF XY: 0.000507 AC XY: 1AN XY: 1972
GnomAD4 genome ? Cov.: 0
ClinVar
Submissions by phenotype
Nemaline myopathy 2 Uncertain:2
Uncertain significance, criteria provided, single submitter | clinical testing | Invitae | Dec 14, 2017 | - - |
Uncertain significance, no assertion criteria provided | clinical testing | Natera, Inc. | Nov 11, 2019 | - - |
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | GeneDx | Oct 21, 2020 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at