chr1-1281608-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001130413.4(SCNN1D):āc.275C>Gā(p.Thr92Arg) variant causes a missense, splice region change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000723 in 1,382,688 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 17/21 in silico tools predict a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. T92K) has been classified as Uncertain significance.
Frequency
Consequence
NM_001130413.4 missense, splice_region
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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SCNN1D | NM_001130413.4 | c.275C>G | p.Thr92Arg | missense_variant, splice_region_variant | Exon 3 of 18 | ENST00000379116.10 | NP_001123885.2 | |
SCNN1D | NR_037668.3 | n.501C>G | splice_region_variant, non_coding_transcript_exon_variant | Exon 3 of 17 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 7.23e-7 AC: 1AN: 1382688Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 682270
GnomAD4 genome Cov.: 33
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.