chr11-103170268-T-G
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_001080463.2(DYNC2H1):āc.5129T>Gā(p.Val1710Gly) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000000691 in 1,447,494 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. V1710D) has been classified as Uncertain significance.
Frequency
Consequence
NM_001080463.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DYNC2H1 | NM_001080463.2 | c.5129T>G | p.Val1710Gly | missense_variant | 33/90 | ENST00000650373.2 | |
DYNC2H1 | NM_001377.3 | c.5129T>G | p.Val1710Gly | missense_variant | 33/89 | ENST00000375735.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DYNC2H1 | ENST00000650373.2 | c.5129T>G | p.Val1710Gly | missense_variant | 33/90 | NM_001080463.2 | A1 | ||
DYNC2H1 | ENST00000375735.7 | c.5129T>G | p.Val1710Gly | missense_variant | 33/89 | 1 | NM_001377.3 | P3 | |
DYNC2H1 | ENST00000334267.11 | c.2205+35849T>G | intron_variant | 1 | |||||
DYNC2H1 | ENST00000649323.1 | c.*2674T>G | 3_prime_UTR_variant, NMD_transcript_variant | 31/51 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000434 AC: 1AN: 230548Hom.: 0 AF XY: 0.00000802 AC XY: 1AN XY: 124716
GnomAD4 exome AF: 6.91e-7 AC: 1AN: 1447494Hom.: 0 Cov.: 30 AF XY: 0.00000139 AC XY: 1AN XY: 718896
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at