X-70427145-C-T
Variant summary
Our verdict is Benign. Variant got -11 ACMG points: 0P and 11B. BP4_StrongBP6_ModerateBP7BS2
The NM_017711.4(GDPD2):c.711C>T(p.Pro237Pro) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000476 in 1,091,317 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 8 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_017711.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -11 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 23
GnomAD3 exomes AF: 0.00000546 AC: 1AN: 183309Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 67751
GnomAD4 exome AF: 0.0000476 AC: 52AN: 1091317Hom.: 0 Cov.: 30 AF XY: 0.0000224 AC XY: 8AN XY: 356969
GnomAD4 genome Cov.: 23
ClinVar
Submissions by phenotype
not provided Benign:1
GDPD2: BP4, BP7 -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at