2-232531264-GGGACCCTCTAGGACCGGTGCCCCAAGGTCACAGCT-GGGACCCTCTAGGACCGGTGCCCCAAGGTCACAGCTGGACCCTCTAGGACCGGTGCCCCAAGGTCACAGCT
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.
The NM_000751.3(CHRND):c.821-52_821-18dupGGACCCTCTAGGACCGGTGCCCCAAGGTCACAGCT variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000892 in 953,304 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.00012 ( 0 hom., cov: 28)
Exomes 𝑓: 0.000084 ( 0 hom. )
Consequence
CHRND
NM_000751.3 intron
NM_000751.3 intron
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.301
Genes affected
CHRND (HGNC:1965): (cholinergic receptor nicotinic delta subunit) The acetylcholine receptor of muscle has 5 subunits of 4 different types: 2 alpha and 1 each of beta, gamma and delta subunits. After acetylcholine binding, the receptor undergoes an extensive conformation change that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. Defects in this gene are a cause of multiple pterygium syndrome lethal type (MUPSL), congenital myasthenic syndrome slow-channel type (SCCMS), and congenital myasthenic syndrome fast-channel type (FCCMS). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2015]
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ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CHRND | NM_000751.3 | c.821-52_821-18dupGGACCCTCTAGGACCGGTGCCCCAAGGTCACAGCT | intron_variant | ENST00000258385.8 | NP_000742.1 | |||
CHRND | NM_001256657.2 | c.776-52_776-18dupGGACCCTCTAGGACCGGTGCCCCAAGGTCACAGCT | intron_variant | NP_001243586.1 | ||||
CHRND | NM_001311196.2 | c.518-52_518-18dupGGACCCTCTAGGACCGGTGCCCCAAGGTCACAGCT | intron_variant | NP_001298125.1 | ||||
CHRND | NM_001311195.2 | c.239-52_239-18dupGGACCCTCTAGGACCGGTGCCCCAAGGTCACAGCT | intron_variant | NP_001298124.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000119 AC: 18AN: 151586Hom.: 0 Cov.: 28
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GnomAD4 exome AF: 0.0000836 AC: 67AN: 801718Hom.: 0 AF XY: 0.0000969 AC XY: 41AN XY: 423314
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GnomAD4 genome AF: 0.000119 AC: 18AN: 151586Hom.: 0 Cov.: 28 AF XY: 0.000135 AC XY: 10AN XY: 73992
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Find out detailed SpliceAI scores and Pangolin per-transcript scores at