16-85710257-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_206967.3(C16orf74):c.79G>A(p.Val27Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000859 in 1,513,168 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_206967.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
C16orf74 | NM_206967.3 | c.79G>A | p.Val27Ile | missense_variant | Exon 3 of 4 | ENST00000284245.9 | NP_996850.1 | |
C16orf74 | NR_161452.1 | n.310G>A | non_coding_transcript_exon_variant | Exon 4 of 5 | ||||
C16orf74 | NR_161454.1 | n.246G>A | non_coding_transcript_exon_variant | Exon 3 of 4 | ||||
C16orf74 | NR_161453.1 | n.218-2191G>A | intron_variant | Intron 2 of 2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152158Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000298 AC: 4AN: 134332Hom.: 0 AF XY: 0.0000396 AC XY: 3AN XY: 75776
GnomAD4 exome AF: 0.00000882 AC: 12AN: 1361010Hom.: 0 Cov.: 33 AF XY: 0.00000742 AC XY: 5AN XY: 673656
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152158Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74324
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.79G>A (p.V27I) alteration is located in exon 3 (coding exon 2) of the C16orf74 gene. This alteration results from a G to A substitution at nucleotide position 79, causing the valine (V) at amino acid position 27 to be replaced by an isoleucine (I). 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