rs594445
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_017947.4(MOCOS):c.2107C>A(p.His703Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.278 in 1,613,574 control chromosomes in the GnomAD database, including 64,313 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_017947.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MOCOS | NM_017947.4 | c.2107C>A | p.His703Asn | missense_variant | 11/15 | ENST00000261326.6 | NP_060417.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MOCOS | ENST00000261326.6 | c.2107C>A | p.His703Asn | missense_variant | 11/15 | 1 | NM_017947.4 | ENSP00000261326.4 |
Frequencies
GnomAD3 genomes AF: 0.234 AC: 35483AN: 151942Hom.: 4805 Cov.: 32
GnomAD3 exomes AF: 0.276 AC: 69332AN: 251388Hom.: 9954 AF XY: 0.278 AC XY: 37802AN XY: 135858
GnomAD4 exome AF: 0.282 AC: 412499AN: 1461514Hom.: 59509 Cov.: 36 AF XY: 0.283 AC XY: 205531AN XY: 727092
GnomAD4 genome AF: 0.233 AC: 35487AN: 152060Hom.: 4804 Cov.: 32 AF XY: 0.239 AC XY: 17783AN XY: 74306
ClinVar
Submissions by phenotype
not provided Benign:2
Benign, criteria provided, single submitter | not provided | Breakthrough Genomics, Breakthrough Genomics | - | - - |
Benign, criteria provided, single submitter | clinical testing | GeneDx | Nov 12, 2018 | This variant is associated with the following publications: (PMID: 27703193) - |
Xanthinuria type II Benign:1
Benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Jan 31, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at