1-152213599-C-T
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BP4_Strong
The NM_001009931.3(HRNR):c.8030G>A(p.Arg2677His) variant causes a missense change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. 14/20 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. R2677P) has been classified as Benign.
Frequency
Consequence
NM_001009931.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00 AC: 9AN: 67736Hom.: 0 Cov.: 10 FAILED QC
GnomAD3 exomes AF: 0.000398 AC: 38AN: 95516Hom.: 0 AF XY: 0.000344 AC XY: 18AN XY: 52364
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.000115 AC: 126AN: 1094390Hom.: 2 Cov.: 31 AF XY: 0.000100 AC XY: 55AN XY: 549604
GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.000133 AC: 9AN: 67794Hom.: 0 Cov.: 10 AF XY: 0.000123 AC XY: 4AN XY: 32480
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at