7-135166727-G-C
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 2P and 6B. PM2BP4_StrongBP6_Moderate
The NM_024033.4(CYREN):āc.358C>Gā(p.Pro120Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000601 in 1,613,926 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/18 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (ā ).
Frequency
Consequence
NM_024033.4 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 | UniProt |
---|---|---|---|---|---|---|---|
CYREN | NM_024033.4 | c.358C>G | p.Pro120Ala | missense_variant | 4/4 | ENST00000393114.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CYREN | ENST00000393114.8 | c.358C>G | p.Pro120Ala | missense_variant | 4/4 | 1 | NM_024033.4 | P1 |
Frequencies
GnomAD3 genomes AF: 0.000342 AC: 52AN: 152220Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000103 AC: 26AN: 251210Hom.: 0 AF XY: 0.0000884 AC XY: 12AN XY: 135810
GnomAD4 exome AF: 0.0000308 AC: 45AN: 1461588Hom.: 0 Cov.: 31 AF XY: 0.0000248 AC XY: 18AN XY: 727124
GnomAD4 genome AF: 0.000341 AC: 52AN: 152338Hom.: 0 Cov.: 32 AF XY: 0.000322 AC XY: 24AN XY: 74490
ClinVar
Submissions by phenotype
not specified Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 17, 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