chr1-41510981-C-T
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP6
The NM_024503.5(HIVEP3):c.6691G>A(p.Asp2231Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000291 in 1,613,480 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (no stars).
Frequency
Consequence
NM_024503.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
HIVEP3 | NM_024503.5 | c.6691G>A | p.Asp2231Asn | missense_variant | 9/9 | ENST00000372583.6 | |
HIVEP3 | NM_001127714.3 | c.6688G>A | p.Asp2230Asn | missense_variant | 8/8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
HIVEP3 | ENST00000372583.6 | c.6691G>A | p.Asp2231Asn | missense_variant | 9/9 | 1 | NM_024503.5 | P5 | |
HIVEP3 | ENST00000372584.5 | c.6688G>A | p.Asp2230Asn | missense_variant | 8/8 | 1 | A2 | ||
HIVEP3 | ENST00000643665.1 | c.6688G>A | p.Asp2230Asn | missense_variant | 8/8 | A2 | |||
HIVEP3 | ENST00000460604.1 | n.1618G>A | non_coding_transcript_exon_variant | 5/5 | 2 |
Frequencies
GnomAD3 genomes AF: 0.00155 AC: 236AN: 152182Hom.: 1 Cov.: 32
GnomAD3 exomes AF: 0.000523 AC: 130AN: 248344Hom.: 0 AF XY: 0.000422 AC XY: 57AN XY: 134912
GnomAD4 exome AF: 0.000160 AC: 234AN: 1461180Hom.: 0 Cov.: 34 AF XY: 0.000146 AC XY: 106AN XY: 726870
GnomAD4 genome AF: 0.00154 AC: 235AN: 152300Hom.: 1 Cov.: 32 AF XY: 0.00146 AC XY: 109AN XY: 74470
ClinVar
Submissions by phenotype
HIVEP3-related disorder Benign:1
Likely benign, no assertion criteria provided | clinical testing | PreventionGenetics, part of Exact Sciences | Jan 28, 2020 | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at