8-79765763-C-T
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_012258.4(HEY1):c.340G>A(p.Asp114Asn) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000443 in 1,603,018 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 Uncertain significance (★).
Frequency
Consequence
NM_012258.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
HEY1 | NM_012258.4 | c.340G>A | p.Asp114Asn | missense_variant | Exon 5 of 5 | ENST00000354724.8 | NP_036390.3 | |
HEY1 | NM_001040708.2 | c.352G>A | p.Asp118Asn | missense_variant | Exon 5 of 5 | NP_001035798.1 | ||
HEY1 | NM_001282851.2 | c.70G>A | p.Asp24Asn | missense_variant | Exon 2 of 2 | NP_001269780.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000361 AC: 55AN: 152268Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000528 AC: 131AN: 248130Hom.: 0 AF XY: 0.000602 AC XY: 81AN XY: 134604
GnomAD4 exome AF: 0.000452 AC: 655AN: 1450632Hom.: 0 Cov.: 32 AF XY: 0.000443 AC XY: 319AN XY: 719352
GnomAD4 genome AF: 0.000361 AC: 55AN: 152386Hom.: 0 Cov.: 33 AF XY: 0.000349 AC XY: 26AN XY: 74518
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.340G>A (p.D114N) alteration is located in exon 5 (coding exon 5) of the HEY1 gene. This alteration results from a G to A substitution at nucleotide position 340, causing the aspartic acid (D) at amino acid position 114 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at