rs749866545
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.
The NM_000751.3(CHRND):c.1127G>A(p.Arg376Gln) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000107 in 1,614,044 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R376W) has been classified as Uncertain significance.
Frequency
Consequence
NM_000751.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CHRND | NM_000751.3 | c.1127G>A | p.Arg376Gln | missense_variant | 10/12 | ENST00000258385.8 | |
CHRND | NM_001256657.2 | c.1082G>A | p.Arg361Gln | missense_variant | 9/11 | ||
CHRND | NM_001311196.2 | c.824G>A | p.Arg275Gln | missense_variant | 10/12 | ||
CHRND | NM_001311195.2 | c.545G>A | p.Arg182Gln | missense_variant | 8/10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CHRND | ENST00000258385.8 | c.1127G>A | p.Arg376Gln | missense_variant | 10/12 | 1 | NM_000751.3 | P1 | |
CHRND | ENST00000543200.5 | c.1082G>A | p.Arg361Gln | missense_variant | 9/11 | 2 | |||
CHRND | ENST00000441621.6 | c.*309G>A | 3_prime_UTR_variant, NMD_transcript_variant | 9/11 | 5 | ||||
CHRND | ENST00000446616.1 | c.*768G>A | 3_prime_UTR_variant, NMD_transcript_variant | 10/12 | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.0000591 AC: 9AN: 152250Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000119 AC: 30AN: 251238Hom.: 0 AF XY: 0.0000810 AC XY: 11AN XY: 135880
GnomAD4 exome AF: 0.000112 AC: 164AN: 1461676Hom.: 0 Cov.: 32 AF XY: 0.000103 AC XY: 75AN XY: 727134
GnomAD4 genome ? AF: 0.0000591 AC: 9AN: 152368Hom.: 0 Cov.: 33 AF XY: 0.0000403 AC XY: 3AN XY: 74518
ClinVar
Submissions by phenotype
not provided Uncertain:2
Uncertain significance, criteria provided, single submitter | clinical testing | Revvity Omics, Revvity | Dec 15, 2020 | - - |
Uncertain significance, criteria provided, single submitter | clinical testing | Eurofins Ntd Llc (ga) | Jan 22, 2018 | - - |
Lethal multiple pterygium syndrome Uncertain:1Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Jan 05, 2024 | - - |
Uncertain significance, criteria provided, single submitter | clinical testing | Illumina Laboratory Services, Illumina | Apr 27, 2017 | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. - |
Congenital myasthenic syndrome Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Illumina Laboratory Services, Illumina | Apr 27, 2017 | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at