2-165990220-A-G
Variant summary
Our verdict is Benign. Variant got -18 ACMG points: 0P and 18B. BP4_ModerateBP6_Very_StrongBA1
The NM_001165963.4(SCN1A):c.*1025T>C variant causes a 3 prime UTR change. The variant allele was found at a frequency of 0.137 in 152,572 control chromosomes in the GnomAD database, including 1,831 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_001165963.4 3_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -18 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SCN1A | ENST00000674923 | c.*1025T>C | 3_prime_UTR_variant | Exon 29 of 29 | NM_001165963.4 | ENSP00000501589.1 | ||||
SCN1A | ENST00000303395 | c.*1025T>C | 3_prime_UTR_variant | Exon 28 of 28 | 5 | ENSP00000303540.4 | ||||
SCN1A | ENST00000375405 | c.*1025T>C | 3_prime_UTR_variant | Exon 26 of 26 | 5 | ENSP00000364554.3 |
Frequencies
GnomAD3 genomes AF: 0.137 AC: 20843AN: 152018Hom.: 1818 Cov.: 32
GnomAD4 exome AF: 0.222 AC: 97AN: 436Hom.: 11 Cov.: 0 AF XY: 0.242 AC XY: 64AN XY: 264
GnomAD4 genome AF: 0.137 AC: 20865AN: 152136Hom.: 1820 Cov.: 32 AF XY: 0.144 AC XY: 10681AN XY: 74368
ClinVar
Submissions by phenotype
Migraine, familial hemiplegic, 3 Benign:1
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. -
Generalized epilepsy with febrile seizures plus, type 2 Benign:1
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. -
not provided Benign:1
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Epilepsy Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at