4-17817337-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_022346.5(NCAPG):c.852G>C(p.Leu284Phe) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000173 in 1,613,954 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_022346.5 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NCAPG | NM_022346.5 | c.852G>C | p.Leu284Phe | missense_variant | 6/21 | ENST00000251496.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NCAPG | ENST00000251496.7 | c.852G>C | p.Leu284Phe | missense_variant | 6/21 | 1 | NM_022346.5 | P1 | |
NCAPG | ENST00000514176.5 | c.*68G>C | 3_prime_UTR_variant, NMD_transcript_variant | 5/20 | 1 | ||||
NCAPG | ENST00000509719.1 | n.106G>C | non_coding_transcript_exon_variant | 1/3 | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.000118 AC: 18AN: 152174Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000278 AC: 7AN: 251386Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135862
GnomAD4 exome AF: 0.00000684 AC: 10AN: 1461780Hom.: 0 Cov.: 32 AF XY: 0.00000275 AC XY: 2AN XY: 727200
GnomAD4 genome ? AF: 0.000118 AC: 18AN: 152174Hom.: 0 Cov.: 32 AF XY: 0.000134 AC XY: 10AN XY: 74352
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jun 11, 2021 | The c.852G>C (p.L284F) alteration is located in exon 6 (coding exon 6) of the NCAPG gene. This alteration results from a G to C substitution at nucleotide position 852, causing the leucine (L) at amino acid position 284 to be replaced by a phenylalanine (F). 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