rs1553575402
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_ModerateBP6_ModerateBP7
The NM_000751.3(CHRND):c.1233C>T(p.Ala411=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Genomes: not found (cov: 33)
Consequence
CHRND
NM_000751.3 synonymous
NM_000751.3 synonymous
Scores
2
Clinical Significance
Conservation
PhyloP100: 1.67
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]
Genome browser will be placed here
ACMG classification
Classification made for transcript
Verdict is Likely_benign. Variant got -3 ACMG points.
PM2
?
Very rare variant in population databases, with high coverage;
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.27).
BP6
?
Variant 2-232534116-C-T is Benign according to our data. Variant chr2-232534116-C-T is described in ClinVar as [Likely_benign]. Clinvar id is 534535.Status of the report is criteria_provided_single_submitter, 1 stars.
BP7
?
Synonymous conserved (PhyloP=1.67 with no splicing effect.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CHRND | NM_000751.3 | c.1233C>T | p.Ala411= | synonymous_variant | 10/12 | ENST00000258385.8 | |
CHRND | NM_001256657.2 | c.1188C>T | p.Ala396= | synonymous_variant | 9/11 | ||
CHRND | NM_001311196.2 | c.930C>T | p.Ala310= | synonymous_variant | 10/12 | ||
CHRND | NM_001311195.2 | c.651C>T | p.Ala217= | synonymous_variant | 8/10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CHRND | ENST00000258385.8 | c.1233C>T | p.Ala411= | synonymous_variant | 10/12 | 1 | NM_000751.3 | P1 | |
CHRND | ENST00000543200.5 | c.1188C>T | p.Ala396= | synonymous_variant | 9/11 | 2 | |||
CHRND | ENST00000441621.6 | c.*415C>T | 3_prime_UTR_variant, NMD_transcript_variant | 9/11 | 5 | ||||
CHRND | ENST00000446616.1 | c.*874C>T | 3_prime_UTR_variant, NMD_transcript_variant | 10/12 | 3 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD3 genomes
?
Cov.:
33
GnomAD4 exome Cov.: 32
GnomAD4 exome
Cov.:
32
GnomAD4 genome ? Cov.: 33
GnomAD4 genome
?
Cov.:
33
ClinVar
Significance: Likely benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
Lethal multiple pterygium syndrome Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | May 03, 2019 | - - |
Computational scores
Source:
Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
Cadd
Benign
Dann
Benign
Splicing
Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at