rs773314283
Variant summary
Our verdict is Benign. Variant got -15 ACMG points: 2P and 17B. PM2BP4_StrongBP6_Very_StrongBP7BS1
The NM_001034850.3(RETREG1):āc.18T>Gā(p.Pro6=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000405 in 1,438,036 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (ā ā ). Synonymous variant affecting the same amino acid position (i.e. P6P) has been classified as Likely benign.
Frequency
Consequence
NM_001034850.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -15 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RETREG1 | NM_001034850.3 | c.18T>G | p.Pro6= | synonymous_variant | 1/9 | ENST00000306320.10 | |
RETREG1-AS1 | NR_109946.1 | n.561+468A>C | intron_variant, non_coding_transcript_variant | ||||
RETREG1 | XM_011514053.4 | c.18T>G | p.Pro6= | synonymous_variant | 1/10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RETREG1 | ENST00000306320.10 | c.18T>G | p.Pro6= | synonymous_variant | 1/9 | 1 | NM_001034850.3 | ||
RETREG1-AS1 | ENST00000653650.1 | n.329+468A>C | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.000171 AC: 26AN: 151614Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000165 AC: 11AN: 66608Hom.: 0 AF XY: 0.0000774 AC XY: 3AN XY: 38778
GnomAD4 exome AF: 0.000432 AC: 556AN: 1286422Hom.: 0 Cov.: 29 AF XY: 0.000433 AC XY: 274AN XY: 632624
GnomAD4 genome AF: 0.000171 AC: 26AN: 151614Hom.: 0 Cov.: 32 AF XY: 0.000149 AC XY: 11AN XY: 74022
ClinVar
Submissions by phenotype
not provided Benign:3
Likely benign, no assertion criteria provided | clinical testing | Clinical Genetics, Academic Medical Center | - | - - |
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Jan 02, 2024 | - - |
Likely benign, no assertion criteria provided | clinical testing | Genome Diagnostics Laboratory, University Medical Center Utrecht | - | - - |
Inborn genetic diseases Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Ambry Genetics | Jul 11, 2019 | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at