chr19-45489444-C-T
Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BS1BS2
The NM_005619.5(RTN2):c.1143G>A(p.Ala381Ala) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00562 in 1,611,386 control chromosomes in the GnomAD database, including 42 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_005619.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -21 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
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RTN2 | NM_005619.5 | c.1143G>A | p.Ala381Ala | synonymous_variant | Exon 6 of 11 | ENST00000245923.9 | NP_005610.1 | |
RTN2 | NM_206900.3 | c.924G>A | p.Ala308Ala | synonymous_variant | Exon 5 of 10 | NP_996783.1 | ||
RTN2 | NM_206901.3 | c.123G>A | p.Ala41Ala | synonymous_variant | Exon 2 of 7 | NP_996784.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00545 AC: 828AN: 151862Hom.: 6 Cov.: 30
GnomAD3 exomes AF: 0.00668 AC: 1640AN: 245594Hom.: 7 AF XY: 0.00689 AC XY: 915AN XY: 132748
GnomAD4 exome AF: 0.00563 AC: 8223AN: 1459406Hom.: 36 Cov.: 32 AF XY: 0.00544 AC XY: 3951AN XY: 725714
GnomAD4 genome AF: 0.00545 AC: 828AN: 151980Hom.: 6 Cov.: 30 AF XY: 0.00602 AC XY: 447AN XY: 74290
ClinVar
Submissions by phenotype
not specified Benign:4
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This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. -
Spastic paraplegia Benign:1
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Spastic paraplegia, autosomal dominant Benign:1
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Hereditary spastic paraplegia Benign:1
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not provided Benign:1
RTN2: BP4, BP7, BS2 -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at