chrX-48974194-T-C
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Variant summary
Our verdict is Benign. Variant got -11 ACMG points: 0P and 11B. BP4_StrongBP6_ModerateBP7BS2
The NM_020137.5(GRIPAP1):āc.2525A>Gā(p.Ter842=) variant causes a stop retained change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0029 in 1,182,444 control chromosomes in the GnomAD database, including 8 homozygotes. There are 1,066 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ).
Frequency
Genomes: š 0.0021 ( 0 hom., 71 hem., cov: 23)
Exomes š: 0.0030 ( 8 hom. 995 hem. )
Consequence
GRIPAP1
NM_020137.5 stop_retained
NM_020137.5 stop_retained
Scores
2
Clinical Significance
Conservation
PhyloP100: 0.662
Genes affected
GRIPAP1 (HGNC:18706): (GRIP1 associated protein 1) This gene encodes a guanine nucleotide exchange factor for the Ras family of small G proteins (RasGEF). The encoded protein interacts in a complex with glutamate receptor interacting protein 1 (GRIP1) and plays a role in the regulation of AMPA receptor function. [provided by RefSeq, Aug 2013]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -11 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.54).
BP6
Variant X-48974194-T-C is Benign according to our data. Variant chrX-48974194-T-C is described in ClinVar as [Benign]. Clinvar id is 718484.Status of the report is criteria_provided_single_submitter, 1 stars.
BP7
Synonymous conserved (PhyloP=0.662 with no splicing effect.
BS2
High Hemizygotes in GnomAd4 at 71 gene
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
GRIPAP1 | NM_020137.5 | c.2525A>G | p.Ter842= | stop_retained_variant | 26/26 | ENST00000376423.8 | NP_064522.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
GRIPAP1 | ENST00000376423.8 | c.2525A>G | p.Ter842= | stop_retained_variant | 26/26 | 1 | NM_020137.5 | ENSP00000365606 | P3 |
Frequencies
GnomAD3 genomes AF: 0.00210 AC: 235AN: 111806Hom.: 0 Cov.: 23 AF XY: 0.00209 AC XY: 71AN XY: 33982
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GnomAD3 exomes AF: 0.00260 AC: 465AN: 178841Hom.: 2 AF XY: 0.00261 AC XY: 166AN XY: 63633
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GnomAD4 exome AF: 0.00299 AC: 3198AN: 1070585Hom.: 8 Cov.: 25 AF XY: 0.00293 AC XY: 995AN XY: 339927
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GnomAD4 genome AF: 0.00210 AC: 235AN: 111859Hom.: 0 Cov.: 23 AF XY: 0.00209 AC XY: 71AN XY: 34045
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ClinVar
Significance: Benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Aug 08, 2018 | - - |
Computational scores
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BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
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Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at