1-152213634-G-T
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP4_StrongBP7
The NM_001009931.3(HRNR):c.7995C>A(p.Ser2665Ser) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. 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. S2665S) has been classified as Likely benign.
Frequency
Consequence
NM_001009931.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00 AC: 1AN: 70692Hom.: 0 Cov.: 10 FAILED QC
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000606 AC: 75AN: 1238386Hom.: 0 Cov.: 28 AF XY: 0.0000675 AC XY: 42AN XY: 622028
GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000141 AC: 1AN: 70752Hom.: 0 Cov.: 10 AF XY: 0.00 AC XY: 0AN XY: 33698
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.