1-37537769-C-T
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 2P and 7B. PM2BP4_StrongBP6_ModerateBP7
The NM_024700.4(SNIP1):c.1170G>A(p.Glu390Glu) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000687 in 1,456,568 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 (★).
Frequency
Consequence
NM_024700.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SNIP1 | ENST00000296215.8 | c.1170G>A | p.Glu390Glu | synonymous_variant | Exon 4 of 4 | 1 | NM_024700.4 | ENSP00000296215.5 | ||
SNIP1 | ENST00000638725.1 | n.1682G>A | non_coding_transcript_exon_variant | Exon 2 of 2 | 2 | |||||
SNIP1 | ENST00000468040.2 | n.*944G>A | downstream_gene_variant | 5 | ENSP00000492185.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.87e-7 AC: 1AN: 1456568Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 724460
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not provided Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.