rs9583500
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_001846.4(COL4A2):c.2152C>T(p.Pro718Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.199 in 1,602,244 control chromosomes in the GnomAD database, including 34,521 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_001846.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
COL4A2 | NM_001846.4 | c.2152C>T | p.Pro718Ser | missense_variant | 28/48 | ENST00000360467.7 | NP_001837.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
COL4A2 | ENST00000360467.7 | c.2152C>T | p.Pro718Ser | missense_variant | 28/48 | 5 | NM_001846.4 | ENSP00000353654.5 | ||
COL4A2 | ENST00000494852.2 | c.70C>T | p.Pro24Ser | missense_variant | 2/4 | 3 | ENSP00000497664.2 |
Frequencies
GnomAD3 genomes AF: 0.226 AC: 34351AN: 151944Hom.: 4379 Cov.: 32
GnomAD3 exomes AF: 0.175 AC: 39604AN: 226146Hom.: 4142 AF XY: 0.173 AC XY: 21189AN XY: 122436
GnomAD4 exome AF: 0.196 AC: 284844AN: 1450182Hom.: 30136 Cov.: 33 AF XY: 0.194 AC XY: 139485AN XY: 719896
GnomAD4 genome AF: 0.226 AC: 34403AN: 152062Hom.: 4385 Cov.: 32 AF XY: 0.219 AC XY: 16269AN XY: 74330
ClinVar
Submissions by phenotype
not provided Benign:3
Benign, criteria provided, single submitter | not provided | Breakthrough Genomics, Breakthrough Genomics | - | - - |
Benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Feb 01, 2024 | - - |
Benign, criteria provided, single submitter | clinical testing | GeneDx | Mar 24, 2018 | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. - |
Porencephaly 2 Benign:2
Benign, criteria provided, single submitter | clinical testing | Genome-Nilou Lab | Jul 22, 2021 | - - |
Benign, criteria provided, single submitter | clinical testing | Illumina Laboratory Services, Illumina | Jan 13, 2018 | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at