1-52899202-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001198961.2(ECHDC2):c.725G>A(p.Gly242Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000211 in 1,613,798 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001198961.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000395 AC: 6AN: 151916Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000199 AC: 5AN: 251420Hom.: 0 AF XY: 0.0000294 AC XY: 4AN XY: 135880
GnomAD4 exome AF: 0.0000192 AC: 28AN: 1461882Hom.: 0 Cov.: 30 AF XY: 0.0000220 AC XY: 16AN XY: 727246
GnomAD4 genome AF: 0.0000395 AC: 6AN: 151916Hom.: 0 Cov.: 33 AF XY: 0.0000269 AC XY: 2AN XY: 74214
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.725G>A (p.G242D) alteration is located in exon 8 (coding exon 8) of the ECHDC2 gene. This alteration results from a G to A substitution at nucleotide position 725, causing the glycine (G) at amino acid position 242 to be replaced by an aspartic acid (D). 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