1-110039482-A-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_033088.4(STRIP1):āc.548A>Gā(p.Asn183Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000135 in 1,609,702 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_033088.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
STRIP1 | NM_033088.4 | c.548A>G | p.Asn183Ser | missense_variant | 5/21 | ENST00000369795.8 | |
STRIP1 | NM_001270768.2 | c.263A>G | p.Asn88Ser | missense_variant | 5/21 | ||
STRIP1 | XM_047432935.1 | c.548A>G | p.Asn183Ser | missense_variant | 5/11 | ||
STRIP1 | NR_073071.2 | n.562A>G | non_coding_transcript_exon_variant | 5/22 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
STRIP1 | ENST00000369795.8 | c.548A>G | p.Asn183Ser | missense_variant | 5/21 | 1 | NM_033088.4 | P1 | |
STRIP1 | ENST00000485775.5 | c.548A>G | p.Asn183Ser | missense_variant, NMD_transcript_variant | 5/22 | 1 | |||
STRIP1 | ENST00000369796.5 | c.263A>G | p.Asn88Ser | missense_variant | 5/21 | 2 | |||
STRIP1 | ENST00000540970.1 | n.301A>G | non_coding_transcript_exon_variant | 2/2 | 3 |
Frequencies
GnomAD3 genomes AF: 0.000177 AC: 27AN: 152192Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000231 AC: 55AN: 238110Hom.: 0 AF XY: 0.000124 AC XY: 16AN XY: 128526
GnomAD4 exome AF: 0.000131 AC: 191AN: 1457392Hom.: 0 Cov.: 32 AF XY: 0.000124 AC XY: 90AN XY: 724470
GnomAD4 genome AF: 0.000177 AC: 27AN: 152310Hom.: 0 Cov.: 32 AF XY: 0.000148 AC XY: 11AN XY: 74478
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | May 17, 2023 | The c.548A>G (p.N183S) alteration is located in exon 5 (coding exon 5) of the STRIP1 gene. This alteration results from a A to G substitution at nucleotide position 548, causing the asparagine (N) at amino acid position 183 to be replaced by a serine (S). 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