chr12-6578867-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP2
The NM_001273.5(CHD4):āc.4960C>Gā(p.Pro1654Ala) variant causes a missense change. The variant allele was found at a frequency of 0.000000684 in 1,461,864 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. P1654T) has been classified as Uncertain significance.
Frequency
Consequence
NM_001273.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CHD4 | NM_001273.5 | c.4960C>G | p.Pro1654Ala | missense_variant | 34/40 | ENST00000544040.7 | |
CHD4 | NM_001297553.2 | c.4939C>G | p.Pro1647Ala | missense_variant | 33/39 | ||
CHD4 | NM_001363606.2 | c.4927C>G | p.Pro1643Ala | missense_variant | 34/40 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CHD4 | ENST00000544040.7 | c.4960C>G | p.Pro1654Ala | missense_variant | 34/40 | 5 | NM_001273.5 | A1 | |
ENST00000501075.2 | n.100+146G>C | intron_variant, non_coding_transcript_variant | 2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251460Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135908
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461864Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 727230
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at