rs576744283
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_ModerateBP6_Moderate
The NM_001365536.1(SCN9A):c.2924A>G(p.Asn975Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000152 in 1,517,338 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. N975Y) has been classified as Uncertain significance.
Frequency
Consequence
NM_001365536.1 missense
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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SCN9A | NM_001365536.1 | c.2924A>G | p.Asn975Ser | missense_variant | 17/27 | ENST00000642356.2 | |
SCN1A-AS1 | NR_110260.1 | n.870-4262T>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SCN9A | ENST00000642356.2 | c.2924A>G | p.Asn975Ser | missense_variant | 17/27 | NM_001365536.1 | P1 | ||
SCN1A-AS1 | ENST00000651574.1 | n.1548-4262T>C | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.0000791 AC: 12AN: 151790Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000174 AC: 3AN: 172900Hom.: 0 AF XY: 0.0000110 AC XY: 1AN XY: 91086
GnomAD4 exome AF: 0.00000806 AC: 11AN: 1365430Hom.: 0 Cov.: 31 AF XY: 0.0000120 AC XY: 8AN XY: 669206
GnomAD4 genome ? AF: 0.0000790 AC: 12AN: 151908Hom.: 0 Cov.: 31 AF XY: 0.0000539 AC XY: 4AN XY: 74204
ClinVar
Submissions by phenotype
Generalized epilepsy with febrile seizures plus, type 7;C2752089:Neuropathy, hereditary sensory and autonomic, type 2A Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Jan 09, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at