6-130184159-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001017373.4(SAMD3):c.598G>A(p.Val200Met) variant causes a missense change. The variant allele was found at a frequency of 0.0000465 in 1,613,842 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001017373.4 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: 0.0000197 AC: 3AN: 152206Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000359 AC: 9AN: 250992Hom.: 0 AF XY: 0.0000369 AC XY: 5AN XY: 135630
GnomAD4 exome AF: 0.0000493 AC: 72AN: 1461518Hom.: 0 Cov.: 31 AF XY: 0.0000358 AC XY: 26AN XY: 727046
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152324Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74474
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.598G>A (p.V200M) alteration is located in exon 7 (coding exon 5) of the SAMD3 gene. This alteration results from a G to A substitution at nucleotide position 598, causing the valine (V) at amino acid position 200 to be replaced by a methionine (M). 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