11-103307730-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 4P and 4B. PM1PM2BP4_Strong
The NM_001080463.2(DYNC2H1):āc.11413A>Gā(p.Thr3805Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000021 in 1,427,238 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ). Synonymous variant affecting the same amino acid position (i.e. T3805T) has been classified as Likely benign.
Frequency
Consequence
NM_001080463.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DYNC2H1 | NM_001080463.2 | c.11413A>G | p.Thr3805Ala | missense_variant | 79/90 | ENST00000650373.2 | |
DYNC2H1 | NM_001377.3 | c.11392A>G | p.Thr3798Ala | missense_variant | 78/89 | ENST00000375735.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DYNC2H1 | ENST00000650373.2 | c.11413A>G | p.Thr3805Ala | missense_variant | 79/90 | NM_001080463.2 | A1 | ||
DYNC2H1 | ENST00000375735.7 | c.11392A>G | p.Thr3798Ala | missense_variant | 78/89 | 1 | NM_001377.3 | P3 | |
DYNC2H1 | ENST00000334267.11 | c.2206-128213A>G | intron_variant | 1 | |||||
DYNC2H1 | ENST00000528670.5 | c.571A>G | p.Thr191Ala | missense_variant, NMD_transcript_variant | 6/17 | 5 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000914 AC: 2AN: 218700Hom.: 0 AF XY: 0.0000170 AC XY: 2AN XY: 117716
GnomAD4 exome AF: 0.00000210 AC: 3AN: 1427238Hom.: 0 Cov.: 28 AF XY: 0.00000424 AC XY: 3AN XY: 707640
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Genetic Services Laboratory, University of Chicago | Jun 09, 2017 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at