rs61734550
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP4_ModerateBP6_ModerateBP7BS2
The NM_170675.5(MEIS2):c.732C>T(p.Ser244Ser) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000424 in 1,613,816 control chromosomes in the GnomAD database, including 4 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_170675.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00212 AC: 322AN: 152102Hom.: 4 Cov.: 32
GnomAD3 exomes AF: 0.000614 AC: 154AN: 250968Hom.: 1 AF XY: 0.000369 AC XY: 50AN XY: 135600
GnomAD4 exome AF: 0.000247 AC: 361AN: 1461596Hom.: 0 Cov.: 30 AF XY: 0.000223 AC XY: 162AN XY: 727106
GnomAD4 genome AF: 0.00213 AC: 324AN: 152220Hom.: 4 Cov.: 32 AF XY: 0.00168 AC XY: 125AN XY: 74410
ClinVar
Submissions by phenotype
MEIS2-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at