chr3-50343153-G-C
Variant summary
Our verdict is Benign. Variant got -15 ACMG points: 2P and 17B. PM2BP4_StrongBP6_Very_StrongBP7BS1
The NM_015896.4(ZMYND10):āc.564C>Gā(p.Leu188=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000867 in 1,614,242 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (ā ā ). Synonymous variant affecting the same amino acid position (i.e. L188L) has been classified as Likely benign.
Frequency
Consequence
NM_015896.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -15 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ZMYND10 | NM_015896.4 | c.564C>G | p.Leu188= | synonymous_variant | 6/12 | ENST00000231749.8 | |
ZMYND10 | NM_001308379.2 | c.564C>G | p.Leu188= | synonymous_variant | 6/11 | ||
ZMYND10 | XM_005265216.4 | c.327C>G | p.Leu109= | synonymous_variant | 5/11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZMYND10 | ENST00000231749.8 | c.564C>G | p.Leu188= | synonymous_variant | 6/12 | 1 | NM_015896.4 | P1 | |
ZMYND10-AS1 | ENST00000440013.1 | n.123+1925G>C | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes AF: 0.000558 AC: 85AN: 152242Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000545 AC: 137AN: 251414Hom.: 0 AF XY: 0.000522 AC XY: 71AN XY: 135890
GnomAD4 exome AF: 0.000899 AC: 1314AN: 1461882Hom.: 0 Cov.: 33 AF XY: 0.000857 AC XY: 623AN XY: 727246
GnomAD4 genome AF: 0.000558 AC: 85AN: 152360Hom.: 0 Cov.: 33 AF XY: 0.000456 AC XY: 34AN XY: 74514
ClinVar
Submissions by phenotype
Inborn genetic diseases Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Ambry Genetics | Jun 23, 2023 | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. - |
Primary ciliary dyskinesia Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Jan 23, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at