chr5-41181408-A-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_000065.5(C6):āc.878T>Gā(p.Ile293Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000151 in 1,461,560 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_000065.5 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 |
---|---|---|---|---|---|---|---|
C6 | NM_000065.5 | c.878T>G | p.Ile293Ser | missense_variant | 7/18 | ENST00000337836.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
C6 | ENST00000337836.10 | c.878T>G | p.Ile293Ser | missense_variant | 7/18 | 1 | NM_000065.5 | P1 | |
C6 | ENST00000263413.7 | c.878T>G | p.Ile293Ser | missense_variant | 7/18 | 1 | P1 | ||
C6 | ENST00000475349.5 | n.277T>G | non_coding_transcript_exon_variant | 2/6 | 3 | ||||
C6 | ENST00000706655.1 | n.1151T>G | non_coding_transcript_exon_variant | 7/11 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.0000151 AC: 22AN: 1461560Hom.: 0 Cov.: 31 AF XY: 0.0000165 AC XY: 12AN XY: 727094
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine | Mar 28, 2016 | Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Variants in this gene are reported to cause increased risk of systemic bacterial infections due to decreased complement activity. However, there is no available information on this variant. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at