rs1042724
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_000746.6(CHRNA7):āc.1269C>Gā(p.Gly423=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. G423G) has been classified as Benign.
Frequency
Consequence
NM_000746.6 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CHRNA7 | NM_000746.6 | c.1269C>G | p.Gly423= | synonymous_variant | 10/10 | ENST00000306901.9 | |
LOC102724078 | XR_007064561.1 | n.963-1358G>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CHRNA7 | ENST00000306901.9 | c.1269C>G | p.Gly423= | synonymous_variant | 10/10 | 1 | NM_000746.6 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00 AC: 0AN: 120988Hom.: 0 Cov.: 16 FAILED QC
GnomAD4 exome Cov.: 40
GnomAD4 genome ? Data not reliable, filtered out with message: AC0;AS_VQSR AF: 0.00 AC: 0AN: 120988Hom.: 0 Cov.: 16 AF XY: 0.00 AC XY: 0AN XY: 58216
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at