19-39198070-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001001414.2(NCCRP1):c.355C>T(p.Pro119Ser) variant causes a missense change. The variant allele was found at a frequency of 0.000162 in 1,613,944 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_001001414.2 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: 0.000171 AC: 26AN: 152194Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000195 AC: 49AN: 251472Hom.: 0 AF XY: 0.000235 AC XY: 32AN XY: 135910
GnomAD4 exome AF: 0.000161 AC: 236AN: 1461632Hom.: 0 Cov.: 32 AF XY: 0.000168 AC XY: 122AN XY: 727120
GnomAD4 genome AF: 0.000171 AC: 26AN: 152312Hom.: 0 Cov.: 32 AF XY: 0.000107 AC XY: 8AN XY: 74484
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.355C>T (p.P119S) alteration is located in exon 2 (coding exon 2) of the NCCRP1 gene. This alteration results from a C to T substitution at nucleotide position 355, causing the proline (P) at amino acid position 119 to be replaced by a serine (S). 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