11-64854745-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_006795.4(EHD1):c.1193G>A(p.Arg398Gln) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000329 in 1,611,722 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_006795.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
EHD1 | NM_006795.4 | c.1193G>A | p.Arg398Gln | missense_variant | Exon 5 of 5 | ENST00000320631.8 | NP_006786.2 | |
EHD1 | NM_001282445.2 | c.1235G>A | p.Arg412Gln | missense_variant | Exon 6 of 6 | NP_001269374.1 | ||
EHD1 | NM_001282444.2 | c.1193G>A | p.Arg398Gln | missense_variant | Exon 7 of 7 | NP_001269373.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000394 AC: 6AN: 152160Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000803 AC: 2AN: 249000Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 134804
GnomAD4 exome AF: 0.0000322 AC: 47AN: 1459562Hom.: 0 Cov.: 31 AF XY: 0.0000289 AC XY: 21AN XY: 726198
GnomAD4 genome AF: 0.0000394 AC: 6AN: 152160Hom.: 0 Cov.: 33 AF XY: 0.0000404 AC XY: 3AN XY: 74322
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1193G>A (p.R398Q) alteration is located in exon 5 (coding exon 5) of the EHD1 gene. This alteration results from a G to A substitution at nucleotide position 1193, causing the arginine (R) at amino acid position 398 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at