rs542134887
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BS2
The ENST00000374866.9(COL5A2):c.961-4_961-3del variant causes a splice region, splice polypyrimidine tract, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000357 in 1,402,016 control chromosomes in the GnomAD database, with no homozygous occurrence. 1/1 splice prediction tools predict no significant impact on normal splicing. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
ENST00000374866.9 splice_region, splice_polypyrimidine_tract, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
COL5A2 | NM_000393.5 | c.961-4_961-3del | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | ENST00000374866.9 | NP_000384.2 | |||
COL5A2 | XM_011510573.4 | c.823-4_823-3del | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | XP_011508875.1 | ||||
COL5A2 | XM_047443251.1 | c.823-4_823-3del | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | XP_047299207.1 | ||||
COL5A2 | XM_047443252.1 | c.823-4_823-3del | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | XP_047299208.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
COL5A2 | ENST00000374866.9 | c.961-4_961-3del | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | 1 | NM_000393.5 | ENSP00000364000 | P1 | |||
COL5A2 | ENST00000618828.1 | c.331-4_331-3del | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | 5 | ENSP00000482184 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000357 AC: 5AN: 1402016Hom.: 0 AF XY: 0.00000430 AC XY: 3AN XY: 698276
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at