chr12-6355643-C-A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001038.6(SCNN1A):c.979+134G>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000133 in 751,502 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001038.6 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SCNN1A | NM_001038.6 | c.979+134G>T | intron_variant | Intron 5 of 12 | ENST00000228916.7 | NP_001029.1 | ||
SCNN1A | NM_001159576.2 | c.1156+134G>T | intron_variant | Intron 4 of 11 | NP_001153048.1 | |||
SCNN1A | NM_001159575.2 | c.1048+134G>T | intron_variant | Intron 5 of 12 | NP_001153047.1 | |||
LOC107984500 | XR_007063191.1 | n.415C>A | non_coding_transcript_exon_variant | Exon 4 of 4 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000133 AC: 1AN: 751502Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 398370
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.