chr5-10461197-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_031916.5(ROPN1L):c.431C>T(p.Ala144Val) variant causes a missense change. The variant allele was found at a frequency of 0.0000273 in 1,613,490 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_031916.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000394 AC: 6AN: 152112Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000319 AC: 8AN: 250652Hom.: 0 AF XY: 0.0000517 AC XY: 7AN XY: 135496
GnomAD4 exome AF: 0.0000260 AC: 38AN: 1461260Hom.: 0 Cov.: 31 AF XY: 0.0000344 AC XY: 25AN XY: 726936
GnomAD4 genome AF: 0.0000394 AC: 6AN: 152230Hom.: 0 Cov.: 33 AF XY: 0.0000672 AC XY: 5AN XY: 74412
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.431C>T (p.A144V) alteration is located in exon 4 (coding exon 4) of the ROPN1L gene. This alteration results from a C to T substitution at nucleotide position 431, causing the alanine (A) at amino acid position 144 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