8-2949338-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_033225.6(CSMD1):c.10363C>A(p.His3455Asn) variant causes a missense change. The variant allele was found at a frequency of 0.00000311 in 1,607,646 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_033225.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 151798Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000208 AC: 5AN: 240492Hom.: 0 AF XY: 0.0000229 AC XY: 3AN XY: 131026
GnomAD4 exome AF: 0.00000206 AC: 3AN: 1455848Hom.: 0 Cov.: 28 AF XY: 0.00000138 AC XY: 1AN XY: 724482
GnomAD4 genome AF: 0.0000132 AC: 2AN: 151798Hom.: 0 Cov.: 33 AF XY: 0.0000135 AC XY: 1AN XY: 74116
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.10363C>A (p.H3455N) alteration is located in exon 68 (coding exon 68) of the CSMD1 gene. This alteration results from a C to A substitution at nucleotide position 10363, causing the histidine (H) at amino acid position 3455 to be replaced by an asparagine (N). 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