rs1322884865
Variant summary
Our verdict is Uncertain significance. Variant got 5 ACMG points: 5P and 0B. PM2PP3_ModeratePP5
The NM_001080463.2(DYNC2H1):c.7112C>T(p.Thr2371Ile) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000806 in 1,612,912 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Likely pathogenic (no stars). Synonymous variant affecting the same amino acid position (i.e. T2371T) 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 5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DYNC2H1 | NM_001080463.2 | c.7112C>T | p.Thr2371Ile | missense_variant | 43/90 | ENST00000650373.2 | |
DYNC2H1 | NM_001377.3 | c.7112C>T | p.Thr2371Ile | missense_variant | 43/89 | ENST00000375735.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DYNC2H1 | ENST00000650373.2 | c.7112C>T | p.Thr2371Ile | missense_variant | 43/90 | NM_001080463.2 | A1 | ||
DYNC2H1 | ENST00000375735.7 | c.7112C>T | p.Thr2371Ile | missense_variant | 43/89 | 1 | NM_001377.3 | P3 | |
DYNC2H1 | ENST00000334267.11 | c.2205+53139C>T | intron_variant | 1 | |||||
DYNC2H1 | ENST00000649323.1 | c.*4657C>T | 3_prime_UTR_variant, NMD_transcript_variant | 41/51 |
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 152048Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000805 AC: 2AN: 248338Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 134728
GnomAD4 exome AF: 0.00000821 AC: 12AN: 1460864Hom.: 0 Cov.: 33 AF XY: 0.00000826 AC XY: 6AN XY: 726716
GnomAD4 genome AF: 0.00000658 AC: 1AN: 152048Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74252
ClinVar
Submissions by phenotype
Asphyxiating thoracic dystrophy 3 Pathogenic:2
Likely pathogenic, no assertion criteria provided | research | University of Washington Center for Mendelian Genomics, University of Washington | - | - - |
Pathogenic, no assertion criteria provided | research | Dan Cohn Lab, University Of California Los Angeles | Jun 01, 2017 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at