3-50341276-C-A
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBS1BS2
The NM_015896.4(ZMYND10):c.*134G>T variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0034 in 1,128,220 control chromosomes in the GnomAD database, including 76 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Genomes: 𝑓 0.015 ( 41 hom., cov: 33)
Exomes 𝑓: 0.0016 ( 35 hom. )
Consequence
ZMYND10
NM_015896.4 3_prime_UTR
NM_015896.4 3_prime_UTR
Scores
2
Clinical Significance
Conservation
PhyloP100: -0.137
Genes affected
ZMYND10 (HGNC:19412): (zinc finger MYND-type containing 10) This gene encodes a protein containing a MYND-type zinc finger domain that likely functions in assembly of the dynein motor. Mutations in this gene can cause primary ciliary dyskinesia. This gene is also considered a tumor suppressor gene and is often mutated, deleted, or hypermethylated and silenced in cancer cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -14 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.74).
BP6
?
Variant 3-50341276-C-A is Benign according to our data. Variant chr3-50341276-C-A is described in ClinVar as [Likely_benign]. Clinvar id is 1193297.Status of the report is criteria_provided_single_submitter, 1 stars.
BS1
?
Variant frequency is greater than expected in population afr. gnomad4 allele frequency = 0.0147 (2242/152330) while in subpopulation AFR AF= 0.0511 (2125/41578). AF 95% confidence interval is 0.0493. There are 41 homozygotes in gnomad4. There are 1037 alleles in male gnomad4 subpopulation. Median coverage is 33. This position pass quality control queck.
BS2
?
High Homozygotes in GnomAd at 38 AR gene
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ZMYND10 | NM_015896.4 | c.*134G>T | 3_prime_UTR_variant | 12/12 | ENST00000231749.8 | ||
ZMYND10 | NM_001308379.2 | c.*134G>T | 3_prime_UTR_variant | 11/11 | |||
ZMYND10 | XM_005265216.4 | c.*134G>T | 3_prime_UTR_variant | 11/11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZMYND10 | ENST00000231749.8 | c.*134G>T | 3_prime_UTR_variant | 12/12 | 1 | NM_015896.4 | P1 | ||
ZMYND10-AS1 | ENST00000440013.1 | n.123+48C>A | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.0145 AC: 2208AN: 152212Hom.: 38 Cov.: 33
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GnomAD4 exome AF: 0.00163 AC: 1590AN: 975890Hom.: 35 Cov.: 13 AF XY: 0.00148 AC XY: 727AN XY: 491312
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ClinVar
Significance: Likely benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | GeneDx | Mar 03, 2019 | - - |
Computational scores
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Name
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BayesDel_noAF
Benign
Cadd
Benign
Dann
Benign
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Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at