NM_001084.5:c.1144G>C
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_001084.5(PLOD3):c.1144G>C(p.Asp382His) variant causes a missense change. The variant allele was found at a frequency of 0.00725 in 1,605,936 control chromosomes in the GnomAD database, including 67 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★). Synonymous variant affecting the same amino acid position (i.e. D382D) has been classified as Likely benign.
Frequency
Consequence
NM_001084.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00570 AC: 867AN: 152140Hom.: 7 Cov.: 32
GnomAD3 exomes AF: 0.00586 AC: 1370AN: 233818Hom.: 5 AF XY: 0.00604 AC XY: 766AN XY: 126832
GnomAD4 exome AF: 0.00741 AC: 10767AN: 1453678Hom.: 60 Cov.: 31 AF XY: 0.00737 AC XY: 5323AN XY: 722540
GnomAD4 genome AF: 0.00571 AC: 869AN: 152258Hom.: 7 Cov.: 32 AF XY: 0.00524 AC XY: 390AN XY: 74422
ClinVar
Submissions by phenotype
not provided Benign:4
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PLOD3: BP4, BS2 -
Bone fragility with contractures, arterial rupture, and deafness Benign:2
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at