rs371194689
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 2P and 7B. PM2BP4_StrongBP6_ModerateBP7
The NM_001164507.2(NEB):c.19836C>T(p.Asp6612=) variant causes a splice region, synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000504 in 1,607,320 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_001164507.2 splice_region, synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NEB | NM_001164507.2 | c.19836C>T | p.Asp6612= | splice_region_variant, synonymous_variant | 128/182 | ENST00000427231.7 | |
NEB | NM_001164508.2 | c.19836C>T | p.Asp6612= | splice_region_variant, synonymous_variant | 128/182 | ENST00000397345.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NEB | ENST00000397345.8 | c.19836C>T | p.Asp6612= | splice_region_variant, synonymous_variant | 128/182 | 5 | NM_001164508.2 | P5 | |
NEB | ENST00000427231.7 | c.19836C>T | p.Asp6612= | splice_region_variant, synonymous_variant | 128/182 | 5 | NM_001164507.2 | A2 |
Frequencies
GnomAD3 genomes ? AF: 0.0000329 AC: 5AN: 152040Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000526 AC: 13AN: 247232Hom.: 0 AF XY: 0.0000672 AC XY: 9AN XY: 134026
GnomAD4 exome AF: 0.0000522 AC: 76AN: 1455280Hom.: 0 Cov.: 29 AF XY: 0.0000552 AC XY: 40AN XY: 724170
GnomAD4 genome ? AF: 0.0000329 AC: 5AN: 152040Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74258
ClinVar
Submissions by phenotype
Nemaline myopathy 2 Uncertain:1Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Dec 02, 2023 | - - |
Uncertain significance, no assertion criteria provided | clinical testing | Natera, Inc. | Nov 11, 2019 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at