NM_148897.3:c.692G>A
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_148897.3(SDR9C7):c.692G>A(p.Arg231Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0022 in 1,612,416 control chromosomes in the GnomAD database, including 72 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_148897.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0112 AC: 1697AN: 152152Hom.: 36 Cov.: 32
GnomAD3 exomes AF: 0.00295 AC: 742AN: 251334Hom.: 23 AF XY: 0.00218 AC XY: 296AN XY: 135828
GnomAD4 exome AF: 0.00126 AC: 1837AN: 1460146Hom.: 36 Cov.: 31 AF XY: 0.00111 AC XY: 803AN XY: 725936
GnomAD4 genome AF: 0.0112 AC: 1708AN: 152270Hom.: 36 Cov.: 32 AF XY: 0.0111 AC XY: 829AN XY: 74444
ClinVar
Submissions by phenotype
not provided Benign:2
- -
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at