2-241036805-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001080437.3(SNED1):c.821C>T(p.Ala274Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000316 in 1,609,112 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001080437.3 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: 0.000184 AC: 28AN: 152152Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000187 AC: 45AN: 241230Hom.: 0 AF XY: 0.000167 AC XY: 22AN XY: 131842
GnomAD4 exome AF: 0.000330 AC: 481AN: 1456960Hom.: 0 Cov.: 32 AF XY: 0.000320 AC XY: 232AN XY: 724986
GnomAD4 genome AF: 0.000184 AC: 28AN: 152152Hom.: 0 Cov.: 32 AF XY: 0.000121 AC XY: 9AN XY: 74312
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.821C>T (p.A274V) alteration is located in exon 5 (coding exon 5) of the SNED1 gene. This alteration results from a C to T substitution at nucleotide position 821, causing the alanine (A) at amino acid position 274 to be replaced by a valine (V). 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