2-219570240-G-T
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 2P and 6B. PM2BP4_StrongBP6BP7
The NM_015311.3(OBSL1):c.993C>A(p.Ala331=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000299 in 1,573,490 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 Conflicting classifications of pathogenicity (no stars). Synonymous variant affecting the same amino acid position (i.e. A331A) has been classified as Uncertain significance.
Frequency
Consequence
NM_015311.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
OBSL1 | NM_015311.3 | c.993C>A | p.Ala331= | synonymous_variant | 1/21 | ENST00000404537.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
OBSL1 | ENST00000404537.6 | c.993C>A | p.Ala331= | synonymous_variant | 1/21 | 1 | NM_015311.3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000788 AC: 12AN: 152252Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000285 AC: 6AN: 210468Hom.: 0 AF XY: 0.0000438 AC XY: 5AN XY: 114154
GnomAD4 exome AF: 0.0000246 AC: 35AN: 1421238Hom.: 0 Cov.: 30 AF XY: 0.0000271 AC XY: 19AN XY: 701382
GnomAD4 genome ? AF: 0.0000788 AC: 12AN: 152252Hom.: 0 Cov.: 33 AF XY: 0.0000941 AC XY: 7AN XY: 74392
ClinVar
Submissions by phenotype
not provided Uncertain:1Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Dec 09, 2023 | - - |
Uncertain significance, criteria provided, single submitter | clinical testing | Eurofins Ntd Llc (ga) | Aug 31, 2017 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at