rs10614
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 0P and 2B. BP4_Moderate
The NM_000265.7(NCF1):āc.295A>Cā(p.Ser99Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. 6/7 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. S99G) has been classified as Benign.
Frequency
Consequence
NM_000265.7 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NCF1 | NM_000265.7 | c.295A>C | p.Ser99Arg | missense_variant | 4/11 | ENST00000289473.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NCF1 | ENST00000289473.11 | c.295A>C | p.Ser99Arg | missense_variant | 4/11 | 1 | NM_000265.7 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00 AC: 1AN: 140692Hom.: 0 Cov.: 22 FAILED QC
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 6.91e-7 AC: 1AN: 1447620Hom.: 0 Cov.: 32 AF XY: 0.00000139 AC XY: 1AN XY: 720042
GnomAD4 genome ? Data not reliable, filtered out with message: AS_VQSR AF: 0.00000711 AC: 1AN: 140692Hom.: 0 Cov.: 22 AF XY: 0.00 AC XY: 0AN XY: 68382
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at