1-31424687-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_178865.5(SERINC2):c.206C>T(p.Pro69Leu) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000192 in 1,596,312 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_178865.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000986 AC: 15AN: 152172Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000823 AC: 18AN: 218672Hom.: 0 AF XY: 0.000110 AC XY: 13AN XY: 118342
GnomAD4 exome AF: 0.000202 AC: 292AN: 1444022Hom.: 0 Cov.: 33 AF XY: 0.000198 AC XY: 142AN XY: 716916
GnomAD4 genome AF: 0.0000985 AC: 15AN: 152290Hom.: 0 Cov.: 33 AF XY: 0.0000940 AC XY: 7AN XY: 74464
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.233C>T (p.P78L) alteration is located in exon 4 (coding exon 4) of the SERINC2 gene. This alteration results from a C to T substitution at nucleotide position 233, causing the proline (P) at amino acid position 78 to be replaced by a leucine (L). 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