9-137065662-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_178448.4(SAPCD2):c.691C>G(p.Gln231Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000936 in 1,602,586 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_178448.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000657 AC: 10AN: 152230Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.00000811 AC: 2AN: 246702Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 133512
GnomAD4 exome AF: 0.00000345 AC: 5AN: 1450356Hom.: 0 Cov.: 33 AF XY: 0.00000417 AC XY: 3AN XY: 719674
GnomAD4 genome AF: 0.0000657 AC: 10AN: 152230Hom.: 0 Cov.: 34 AF XY: 0.0000403 AC XY: 3AN XY: 74372
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.691C>G (p.Q231E) alteration is located in exon 3 (coding exon 3) of the SAPCD2 gene. This alteration results from a C to G substitution at nucleotide position 691, causing the glutamine (Q) at amino acid position 231 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at