chr4-140395849-T-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_004362.3(CLGN):c.1119A>T(p.Arg373Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000557 in 1,545,278 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_004362.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CLGN | NM_004362.3 | c.1119A>T | p.Arg373Ser | missense_variant | 10/15 | ENST00000325617.10 | NP_004353.1 | |
CLGN | NM_001130675.2 | c.1119A>T | p.Arg373Ser | missense_variant | 11/16 | NP_001124147.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CLGN | ENST00000325617.10 | c.1119A>T | p.Arg373Ser | missense_variant | 10/15 | 1 | NM_004362.3 | ENSP00000326699 | P1 | |
CLGN | ENST00000414773.5 | c.1119A>T | p.Arg373Ser | missense_variant | 11/16 | 1 | ENSP00000392782 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000526 AC: 8AN: 152084Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000952 AC: 19AN: 199508Hom.: 0 AF XY: 0.000121 AC XY: 13AN XY: 107542
GnomAD4 exome AF: 0.0000560 AC: 78AN: 1393194Hom.: 0 Cov.: 31 AF XY: 0.0000580 AC XY: 40AN XY: 689296
GnomAD4 genome AF: 0.0000526 AC: 8AN: 152084Hom.: 0 Cov.: 31 AF XY: 0.0000673 AC XY: 5AN XY: 74282
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 02, 2024 | The c.1119A>T (p.R373S) alteration is located in exon 11 (coding exon 9) of the CLGN gene. This alteration results from a A to T substitution at nucleotide position 1119, causing the arginine (R) at amino acid position 373 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at