2-85344072-TCA-T
Variant names:
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP6_ModerateBS2
The NM_017750.4(RETSAT):c.1458_1459delTG(p.Tyr486fs) variant causes a frameshift change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000664 in 1,614,140 control chromosomes in the GnomAD database, including 6 homozygotes. Variant has been reported in ClinVar as Benign (★). Variant results in nonsense mediated mRNA decay.
Frequency
Genomes: 𝑓 0.0038 ( 4 hom., cov: 32)
Exomes 𝑓: 0.00033 ( 2 hom. )
Consequence
RETSAT
NM_017750.4 frameshift
NM_017750.4 frameshift
Scores
Not classified
Clinical Significance
Conservation
PhyloP100: 2.85
Genes affected
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ACMG classification
Classification made for transcript
Verdict is Likely_benign. Variant got -6 ACMG points.
BP6
Variant 2-85344072-TCA-T is Benign according to our data. Variant chr2-85344072-TCA-T is described in ClinVar as [Benign]. Clinvar id is 785967.Status of the report is criteria_provided_single_submitter, 1 stars.
BS2
High Homozygotes in GnomAd4 at 4 AR gene
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RETSAT | ENST00000295802.9 | c.1458_1459delTG | p.Tyr486fs | frameshift_variant | Exon 9 of 11 | 1 | NM_017750.4 | ENSP00000295802.4 | ||
RETSAT | ENST00000429806.5 | n.880+165_880+166delTG | intron_variant | Intron 6 of 7 | 1 | ENSP00000388202.1 | ||||
RETSAT | ENST00000449375.1 | c.822_823delTG | p.Tyr274fs | frameshift_variant | Exon 6 of 8 | 5 | ENSP00000412166.1 | |||
RETSAT | ENST00000438611.4 | n.*508+165_*508+166delTG | intron_variant | Intron 4 of 5 | 5 | ENSP00000444814.1 |
Frequencies
GnomAD3 genomes AF: 0.00383 AC: 583AN: 152144Hom.: 4 Cov.: 32
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GnomAD3 exomes AF: 0.000883 AC: 222AN: 251460Hom.: 1 AF XY: 0.000633 AC XY: 86AN XY: 135902
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GnomAD4 exome AF: 0.000334 AC: 488AN: 1461878Hom.: 2 AF XY: 0.000278 AC XY: 202AN XY: 727246
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GnomAD4 genome AF: 0.00383 AC: 583AN: 152262Hom.: 4 Cov.: 32 AF XY: 0.00356 AC XY: 265AN XY: 74440
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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
Jul 12, 2018
Labcorp Genetics (formerly Invitae), Labcorp
Significance: Benign
Review Status: criteria provided, single submitter
Collection Method: clinical testing
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Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at