7-86880501-T-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001142749.3(ELAPOR2):āc.3060A>Cā(p.Gln1020His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000108 in 1,609,428 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 Uncertain significance (ā ).
Frequency
Consequence
NM_001142749.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ELAPOR2 | NM_001142749.3 | c.3060A>C | p.Gln1020His | missense_variant | 22/22 | ENST00000450689.7 | NP_001136221.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ELAPOR2 | ENST00000450689.7 | c.3060A>C | p.Gln1020His | missense_variant | 22/22 | 5 | NM_001142749.3 | ENSP00000413445 | P2 | |
ELAPOR2 | ENST00000444627.5 | c.2847A>C | p.Gln949His | missense_variant | 22/22 | 5 | ENSP00000397377 | A2 | ||
ELAPOR2 | ENST00000416314.5 | c.2559A>C | p.Gln853His | missense_variant | 21/21 | 2 | ENSP00000402390 | A2 | ||
ELAPOR2 | ENST00000394714.6 | c.*2332A>C | 3_prime_UTR_variant, NMD_transcript_variant | 20/20 | 5 | ENSP00000378203 |
Frequencies
GnomAD3 genomes AF: 0.0000724 AC: 11AN: 152006Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000482 AC: 12AN: 249170Hom.: 0 AF XY: 0.0000445 AC XY: 6AN XY: 134794
GnomAD4 exome AF: 0.000112 AC: 163AN: 1457422Hom.: 0 Cov.: 28 AF XY: 0.000101 AC XY: 73AN XY: 725510
GnomAD4 genome AF: 0.0000724 AC: 11AN: 152006Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74220
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Mar 24, 2023 | The c.3060A>C (p.Q1020H) alteration is located in exon 22 (coding exon 22) of the KIAA1324L gene. This alteration results from a A to C substitution at nucleotide position 3060, causing the glutamine (Q) at amino acid position 1020 to be replaced by a histidine (H). 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