chr9-113422578-C-T
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 2P and 6B. PM2BP4_StrongBP6_Moderate
The NM_001278629.2(C9orf43):c.476C>T(p.Ser159Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000502 in 1,613,732 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_001278629.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
C9orf43 | NM_001278629.2 | c.476C>T | p.Ser159Leu | missense_variant | 6/14 | ENST00000374165.6 | NP_001265558.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
C9orf43 | ENST00000374165.6 | c.476C>T | p.Ser159Leu | missense_variant | 6/14 | 1 | NM_001278629.2 | ENSP00000363280 | P1 | |
C9orf43 | ENST00000288462.4 | c.476C>T | p.Ser159Leu | missense_variant | 6/14 | 1 | ENSP00000288462 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000920 AC: 14AN: 152122Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000836 AC: 21AN: 251084Hom.: 0 AF XY: 0.000103 AC XY: 14AN XY: 135704
GnomAD4 exome AF: 0.0000458 AC: 67AN: 1461610Hom.: 1 Cov.: 31 AF XY: 0.0000550 AC XY: 40AN XY: 727108
GnomAD4 genome AF: 0.0000920 AC: 14AN: 152122Hom.: 0 Cov.: 32 AF XY: 0.000108 AC XY: 8AN XY: 74294
ClinVar
Submissions by phenotype
not specified Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 06, 2021 | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at