chr1-156907615-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001080471.3(PEAR1):āc.650A>Gā(p.Asp217Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000205 in 1,460,018 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001080471.3 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 | UniProt |
---|---|---|---|---|---|---|---|
PEAR1 | NM_001080471.3 | c.650A>G | p.Asp217Gly | missense_variant | 7/23 | ENST00000292357.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PEAR1 | ENST00000292357.8 | c.650A>G | p.Asp217Gly | missense_variant | 7/23 | 5 | NM_001080471.3 | P1 | |
PEAR1 | ENST00000338302.7 | c.650A>G | p.Asp217Gly | missense_variant | 8/24 | 5 | P1 | ||
PEAR1 | ENST00000469390.5 | n.302A>G | non_coding_transcript_exon_variant | 3/18 | 2 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000401 AC: 1AN: 249462Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 134870
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1460018Hom.: 0 Cov.: 30 AF XY: 0.00000138 AC XY: 1AN XY: 726308
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Sep 16, 2021 | The c.650A>G (p.D217G) alteration is located in exon 7 (coding exon 6) of the PEAR1 gene. This alteration results from a A to G substitution at nucleotide position 650, causing the aspartic acid (D) at amino acid position 217 to be replaced by a glycine (G). 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