1-42746754-G-A
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 2P and 6B. PM2BP4_StrongBP6BP7
The NM_022356.4(P3H1):c.2154C>T(p.Pro718Pro) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000116 in 1,554,366 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars). Synonymous variant affecting the same amino acid position (i.e. P718P) has been classified as Likely benign.
Frequency
Consequence
NM_022356.4 synonymous
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: 0.0000263 AC: 4AN: 152046Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000124 AC: 2AN: 161854Hom.: 0 AF XY: 0.0000116 AC XY: 1AN XY: 85842
GnomAD4 exome AF: 0.00000998 AC: 14AN: 1402320Hom.: 0 Cov.: 31 AF XY: 0.00000867 AC XY: 6AN XY: 692020
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152046Hom.: 0 Cov.: 33 AF XY: 0.0000404 AC XY: 3AN XY: 74252
ClinVar
Submissions by phenotype
Osteogenesis imperfecta Uncertain:1
- -
Osteogenesis imperfecta type 8 Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at