rs497078
Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BA1
The ENST00000375949.5(CTRC):c.180C>A(p.Gly60=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00265 in 1,614,058 control chromosomes in the GnomAD database, including 123 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★). Synonymous variant affecting the same amino acid position (i.e. G60G) has been classified as Benign.
Frequency
Consequence
ENST00000375949.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -21 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CTRC | NM_007272.3 | c.180C>A | p.Gly60= | synonymous_variant | 3/8 | ENST00000375949.5 | NP_009203.2 | |
CTRC | XM_011540550.2 | c.180C>A | p.Gly60= | synonymous_variant | 3/7 | XP_011538852.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CTRC | ENST00000375949.5 | c.180C>A | p.Gly60= | synonymous_variant | 3/8 | 1 | NM_007272.3 | ENSP00000365116 | P1 | |
CTRC | ENST00000375943.6 | c.41-1907C>A | intron_variant | 1 | ENSP00000365110 | |||||
CTRC | ENST00000483406.1 | n.90C>A | non_coding_transcript_exon_variant | 2/6 | 5 | |||||
CTRC | ENST00000476813.5 | n.53-1907C>A | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes AF: 0.0140 AC: 2126AN: 152106Hom.: 59 Cov.: 32
GnomAD3 exomes AF: 0.00368 AC: 925AN: 251208Hom.: 18 AF XY: 0.00260 AC XY: 353AN XY: 135796
GnomAD4 exome AF: 0.00146 AC: 2131AN: 1461834Hom.: 63 Cov.: 34 AF XY: 0.00124 AC XY: 899AN XY: 727218
GnomAD4 genome AF: 0.0141 AC: 2140AN: 152224Hom.: 60 Cov.: 32 AF XY: 0.0140 AC XY: 1040AN XY: 74432
ClinVar
Submissions by phenotype
Hereditary pancreatitis Benign:4Other:1
Likely benign, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 20, 2014 | 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. - |
Benign, criteria provided, single submitter | clinical testing | Illumina Laboratory Services, Illumina | Apr 27, 2017 | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign. - |
Benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Feb 01, 2024 | - - |
Benign, criteria provided, single submitter | clinical testing | ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories | Nov 17, 2023 | - - |
association, no assertion criteria provided | literature only | GeneReviews | Mar 13, 2014 | - - |
not provided Benign:2
Likely benign, criteria provided, single submitter | not provided | Breakthrough Genomics, Breakthrough Genomics | - | - - |
Benign, criteria provided, single submitter | clinical testing | GeneDx | Jun 22, 2018 | - - |
not specified Benign:1
Benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | - | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at