22-43973288-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_015380.5(SAMM50):c.613C>T(p.Arg205Trp) variant causes a missense change. The variant allele was found at a frequency of 0.0000436 in 1,606,954 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R205Q) has been classified as Uncertain significance.
Frequency
Consequence
NM_015380.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000394 AC: 6AN: 152240Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000438 AC: 11AN: 251390Hom.: 0 AF XY: 0.0000294 AC XY: 4AN XY: 135878
GnomAD4 exome AF: 0.0000440 AC: 64AN: 1454596Hom.: 0 Cov.: 28 AF XY: 0.0000400 AC XY: 29AN XY: 724146
GnomAD4 genome AF: 0.0000394 AC: 6AN: 152358Hom.: 0 Cov.: 33 AF XY: 0.0000268 AC XY: 2AN XY: 74506
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.613C>T (p.R205W) alteration is located in exon 7 (coding exon 7) of the SAMM50 gene. This alteration results from a C to T substitution at nucleotide position 613, causing the arginine (R) at amino acid position 205 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at