NM_007208.4:c.816+12A>C
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_007208.4(MRPL3):c.816+12A>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.154 in 1,591,224 control chromosomes in the GnomAD database, including 21,091 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_007208.4 intron
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: 0.120 AC: 18238AN: 152056Hom.: 1457 Cov.: 32
GnomAD3 exomes AF: 0.146 AC: 35414AN: 242578Hom.: 3189 AF XY: 0.155 AC XY: 20359AN XY: 131056
GnomAD4 exome AF: 0.158 AC: 227558AN: 1439050Hom.: 19632 Cov.: 27 AF XY: 0.162 AC XY: 115751AN XY: 716578
GnomAD4 genome AF: 0.120 AC: 18243AN: 152174Hom.: 1459 Cov.: 32 AF XY: 0.121 AC XY: 9022AN XY: 74410
ClinVar
Submissions by phenotype
not provided Benign:2
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not specified Benign:1
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at