12-112167869-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP2
The NM_001388303.1(HECTD4):c.12257G>A(p.Ser4086Asn) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,461,272 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. S4086I) has been classified as Uncertain significance.
Frequency
Consequence
NM_001388303.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
HECTD4 | NM_001388303.1 | c.12257G>A | p.Ser4086Asn | missense_variant | 71/76 | ENST00000682272.1 | |
HECTD4 | NM_001109662.4 | c.12287G>A | p.Ser4096Asn | missense_variant | 71/76 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
HECTD4 | ENST00000682272.1 | c.12257G>A | p.Ser4086Asn | missense_variant | 71/76 | NM_001388303.1 | P4 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461272Hom.: 0 Cov.: 31 AF XY: 0.00000275 AC XY: 2AN XY: 726942
GnomAD4 genome ? Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 08, 2021 | The c.11741G>A (p.S3914N) alteration is located in exon 70 (coding exon 69) of the HECTD4 gene. This alteration results from a G to A substitution at nucleotide position 11741, causing the serine (S) at amino acid position 3914 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
Publications
No publications associated with this variant yet.