rs371011047
Positions:
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.
The NM_001080463.2(DYNC2H1):c.1306G>A(p.Glu436Lys) variant causes a missense change involving the alteration of a conserved nucleotide. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.0000066 ( 0 hom., cov: 32)
Exomes 𝑓: 0.0 ( 0 hom. )
Failed GnomAD Quality Control
Consequence
DYNC2H1
NM_001080463.2 missense
NM_001080463.2 missense
Scores
1
7
5
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 9.48
Genes affected
DYNC2H1 (HGNC:2962): (dynein cytoplasmic 2 heavy chain 1) This gene encodes a large cytoplasmic dynein protein that is involved in retrograde transport in the cilium and has a role in intraflagellar transport, a process required for ciliary/flagellar assembly. Mutations in this gene cause a heterogeneous spectrum of conditions related to altered primary cilium function and often involve polydactyly, abnormal skeletogenesis, and polycystic kidneys. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jan 2010]
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ACMG classification
Classification made for transcript
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.1306G>A | p.Glu436Lys | missense_variant | 9/90 | ENST00000650373.2 | |
DYNC2H1 | NM_001377.3 | c.1306G>A | p.Glu436Lys | missense_variant | 9/89 | ENST00000375735.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DYNC2H1 | ENST00000650373.2 | c.1306G>A | p.Glu436Lys | missense_variant | 9/90 | NM_001080463.2 | A1 | ||
DYNC2H1 | ENST00000375735.7 | c.1306G>A | p.Glu436Lys | missense_variant | 9/89 | 1 | NM_001377.3 | P3 |
Frequencies
GnomAD3 genomes ? AF: 0.00 AC: 1AN: 151966Hom.: 0 Cov.: 32 FAILED QC
GnomAD3 genomes
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FAILED QC
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GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1437386Hom.: 0 Cov.: 29 AF XY: 0.00 AC XY: 0AN XY: 713760
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GnomAD4 genome ? Data not reliable, filtered out with message: AS_VQSR AF: 0.00000658 AC: 1AN: 151966Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74254
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ClinVar
Not reported inComputational scores
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Name
Calibrated prediction
Score
Prediction
AlphaMissense
Benign
BayesDel_addAF
Uncertain
T
BayesDel_noAF
Benign
CADD
Uncertain
DANN
Uncertain
Eigen
Uncertain
Eigen_PC
Uncertain
FATHMM_MKL
Pathogenic
D
LIST_S2
Uncertain
D;.;D;D;.;D
M_CAP
Benign
T
MetaRNN
Uncertain
D;D;D;D;D;D
MetaSVM
Benign
T
MutationTaster
Benign
D;D;D
PrimateAI
Uncertain
T
Polyphen
0.20, 0.79, 0.099
.;B;P;B;B;B
Vest4
0.60, 0.65, 0.61
MutPred
Gain of MoRF binding (P = 0.0108);Gain of MoRF binding (P = 0.0108);Gain of MoRF binding (P = 0.0108);Gain of MoRF binding (P = 0.0108);Gain of MoRF binding (P = 0.0108);Gain of MoRF binding (P = 0.0108);
MVP
0.67
MPC
0.093
ClinPred
D
GERP RS
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Splicing
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at