14-54957608-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_007086.4(WDHD1):c.2729G>A(p.Arg910Gln) variant causes a missense change. The variant allele was found at a frequency of 0.0000056 in 1,606,296 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_007086.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
WDHD1 | NM_007086.4 | c.2729G>A | p.Arg910Gln | missense_variant | Exon 22 of 26 | ENST00000360586.8 | NP_009017.1 | |
WDHD1 | NM_001008396.3 | c.2360G>A | p.Arg787Gln | missense_variant | Exon 21 of 25 | NP_001008397.1 | ||
WDHD1 | XM_006720012.2 | c.2723G>A | p.Arg908Gln | missense_variant | Exon 22 of 26 | XP_006720075.1 | ||
WDHD1 | XM_011536373.3 | c.1640G>A | p.Arg547Gln | missense_variant | Exon 13 of 17 | XP_011534675.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
WDHD1 | ENST00000360586.8 | c.2729G>A | p.Arg910Gln | missense_variant | Exon 22 of 26 | 1 | NM_007086.4 | ENSP00000353793.3 | ||
WDHD1 | ENST00000420358.2 | c.2360G>A | p.Arg787Gln | missense_variant | Exon 21 of 25 | 5 | ENSP00000399349.2 | |||
WDHD1 | ENST00000567693.1 | n.*1179G>A | non_coding_transcript_exon_variant | Exon 10 of 14 | 2 | ENSP00000456806.1 | ||||
WDHD1 | ENST00000567693.1 | n.*1179G>A | 3_prime_UTR_variant | Exon 10 of 14 | 2 | ENSP00000456806.1 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152156Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000123 AC: 3AN: 243994Hom.: 0 AF XY: 0.00000758 AC XY: 1AN XY: 131852
GnomAD4 exome AF: 0.00000481 AC: 7AN: 1454140Hom.: 0 Cov.: 30 AF XY: 0.00000553 AC XY: 4AN XY: 723192
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152156Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74336
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2729G>A (p.R910Q) alteration is located in exon 22 (coding exon 21) of the WDHD1 gene. This alteration results from a G to A substitution at nucleotide position 2729, causing the arginine (R) at amino acid position 910 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