2-232534010-G-A
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).
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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CHRND | NM_000751.3 | c.1127G>A | p.Arg376Gln | missense_variant | Exon 10 of 12 | ENST00000258385.8 | NP_000742.1 | |
CHRND | NM_001256657.2 | c.1082G>A | p.Arg361Gln | missense_variant | Exon 9 of 11 | NP_001243586.1 | ||
CHRND | NM_001311196.2 | c.824G>A | p.Arg275Gln | missense_variant | Exon 10 of 12 | NP_001298125.1 | ||
CHRND | NM_001311195.2 | c.545G>A | p.Arg182Gln | missense_variant | Exon 8 of 10 | NP_001298124.1 |
Ensembl
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
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Lethal multiple pterygium syndrome Uncertain:1Benign:1
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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
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