2-151724916-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4BP6
The NM_001164507.2(NEB):c.448G>A(p.Val150Ile) variant causes a missense change. The variant allele was found at a frequency of 0.0000502 in 1,613,742 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 Conflicting classifications of pathogenicity (no stars). Synonymous variant affecting the same amino acid position (i.e. V150V) 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 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NEB | NM_001164507.2 | c.448G>A | p.Val150Ile | missense_variant | 7/182 | ENST00000427231.7 | |
NEB | NM_001164508.2 | c.448G>A | p.Val150Ile | missense_variant | 7/182 | ENST00000397345.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NEB | ENST00000397345.8 | c.448G>A | p.Val150Ile | missense_variant | 7/182 | 5 | NM_001164508.2 | P5 | |
NEB | ENST00000427231.7 | c.448G>A | p.Val150Ile | missense_variant | 7/182 | 5 | NM_001164507.2 | A2 | |
NEB | ENST00000409198.5 | c.448G>A | p.Val150Ile | missense_variant | 7/150 | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.0000460 AC: 7AN: 152226Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000241 AC: 6AN: 248944Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 135064
GnomAD4 exome AF: 0.0000506 AC: 74AN: 1461516Hom.: 0 Cov.: 31 AF XY: 0.0000495 AC XY: 36AN XY: 727038
GnomAD4 genome ? AF: 0.0000460 AC: 7AN: 152226Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74370
ClinVar
Submissions by phenotype
Nemaline myopathy 2 Uncertain:1Benign:1
Uncertain significance, no assertion criteria provided | clinical testing | Natera, Inc. | Nov 11, 2019 | - - |
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Jan 25, 2024 | - - |
not provided Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Revvity Omics, Revvity | Aug 09, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at