8-79766065-C-CA
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Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP6_ModerateBA1
The ENST00000354724.8(HEY1):c.332-295_332-294insT variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.426 in 713,632 control chromosomes in the GnomAD database, including 66,281 homozygotes. Variant has been reported in ClinVar as Benign (★).
Frequency
Genomes: 𝑓 0.44 ( 15118 hom., cov: 0)
Exomes 𝑓: 0.42 ( 51163 hom. )
Consequence
HEY1
ENST00000354724.8 intron
ENST00000354724.8 intron
Scores
Not classified
Clinical Significance
Conservation
PhyloP100: 2.72
Genes affected
HEY1 (HGNC:4880): (hes related family bHLH transcription factor with YRPW motif 1) This gene encodes a nuclear protein belonging to the hairy and enhancer of split-related (HESR) family of basic helix-loop-helix (bHLH)-type transcriptional repressors. Expression of this gene is induced by the Notch and c-Jun signal transduction pathways. Two similar and redundant genes in mouse are required for embryonic cardiovascular development, and are also implicated in neurogenesis and somitogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -10 ACMG points.
BP6
Variant 8-79766065-C-CA is Benign according to our data. Variant chr8-79766065-C-CA is described in ClinVar as [Benign]. Clinvar id is 1220652.Status of the report is criteria_provided_single_submitter, 1 stars.
BA1
GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.481 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
HEY1 | NM_012258.4 | c.332-295_332-294insT | intron_variant | ENST00000354724.8 | NP_036390.3 | |||
HEY1 | NM_001040708.2 | c.344-295_344-294insT | intron_variant | NP_001035798.1 | ||||
HEY1 | NM_001282851.2 | c.61+137_61+138insT | intron_variant | NP_001269780.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
HEY1 | ENST00000354724.8 | c.332-295_332-294insT | intron_variant | 1 | NM_012258.4 | ENSP00000346761 | P1 |
Frequencies
GnomAD3 genomes AF: 0.443 AC: 67375AN: 151938Hom.: 15109 Cov.: 0
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GnomAD4 exome AF: 0.421 AC: 236486AN: 561576Hom.: 51163 AF XY: 0.420 AC XY: 122443AN XY: 291470
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GnomAD4 genome AF: 0.443 AC: 67419AN: 152056Hom.: 15118 Cov.: 0 AF XY: 0.443 AC XY: 32962AN XY: 74324
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ClinVar
Significance: Benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | GeneDx | Nov 12, 2018 | - - |
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Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at