rs6798015
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_006514.4(SCN10A):c.951-186G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.698 in 152,094 control chromosomes in the GnomAD database, including 37,968 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_006514.4 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SCN10A | ENST00000449082.3 | c.951-186G>A | intron_variant | Intron 8 of 27 | 1 | NM_006514.4 | ENSP00000390600.2 | |||
SCN10A | ENST00000643924.1 | c.951-186G>A | intron_variant | Intron 7 of 26 | ENSP00000495595.1 | |||||
SCN10A | ENST00000655275.1 | c.978-186G>A | intron_variant | Intron 8 of 27 | ENSP00000499510.1 |
Frequencies
GnomAD3 genomes AF: 0.697 AC: 105996AN: 151976Hom.: 37902 Cov.: 32
GnomAD4 genome AF: 0.698 AC: 106127AN: 152094Hom.: 37968 Cov.: 32 AF XY: 0.695 AC XY: 51633AN XY: 74330
ClinVar
Submissions by phenotype
not provided Benign:1
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at