rs774401500
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 3P and 1B. PM2PP2BP4
The NM_001271.4(CHD2):c.4891C>T(p.His1631Tyr) variant causes a missense change. The variant allele was found at a frequency of 0.00000205 in 1,461,760 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 (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. H1631P) has been classified as Uncertain significance.
Frequency
Consequence
NM_001271.4 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CHD2 | NM_001271.4 | c.4891C>T | p.His1631Tyr | missense_variant | 37/39 | ENST00000394196.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CHD2 | ENST00000394196.9 | c.4891C>T | p.His1631Tyr | missense_variant | 37/39 | 5 | NM_001271.4 | P1 | |
CHD2 | ENST00000626874.2 | c.4891C>T | p.His1631Tyr | missense_variant | 37/38 | 1 | |||
CHD2 | ENST00000625662.3 | c.*1062C>T | 3_prime_UTR_variant, NMD_transcript_variant | 33/35 | 5 | ||||
CHD2 | ENST00000627460.1 | c.*23C>T | 3_prime_UTR_variant, NMD_transcript_variant | 3/5 | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251150Hom.: 0 AF XY: 0.00000737 AC XY: 1AN XY: 135704
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1461760Hom.: 0 Cov.: 31 AF XY: 0.00000413 AC XY: 3AN XY: 727196
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
not provided Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Athena Diagnostics | Nov 17, 2017 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at