rs1211056097
Variant summary
Our verdict is Uncertain significance. Variant got 5 ACMG points: 5P and 0B. PM2PM4PP3
The NM_001164507.2(NEB):c.25534_25535insTATGCACTGTGCAGAGGACTG(p.Thr8511_Gly8512insValCysThrValGlnArgThr) variant causes a inframe insertion change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,190 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Synonymous variant affecting the same amino acid position (i.e. G8512G) has been classified as Likely benign.
Frequency
Consequence
NM_001164507.2 inframe_insertion
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NEB | NM_001164507.2 | c.25534_25535insTATGCACTGTGCAGAGGACTG | p.Thr8511_Gly8512insValCysThrValGlnArgThr | inframe_insertion | 182/182 | ENST00000427231.7 | |
NEB | NM_001164508.2 | c.25534_25535insTATGCACTGTGCAGAGGACTG | p.Thr8511_Gly8512insValCysThrValGlnArgThr | inframe_insertion | 182/182 | ENST00000397345.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NEB | ENST00000397345.8 | c.25534_25535insTATGCACTGTGCAGAGGACTG | p.Thr8511_Gly8512insValCysThrValGlnArgThr | inframe_insertion | 182/182 | 5 | NM_001164508.2 | P5 | |
NEB | ENST00000427231.7 | c.25534_25535insTATGCACTGTGCAGAGGACTG | p.Thr8511_Gly8512insValCysThrValGlnArgThr | inframe_insertion | 182/182 | 5 | NM_001164507.2 | A2 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.00000402 AC: 1AN: 248576Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 134782
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461190Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 726802
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
Nemaline myopathy 2 Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Counsyl | May 23, 2017 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at