rs77176843
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_000093.5(COL5A1):c.4230+6G>A variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0344 in 1,601,504 control chromosomes in the GnomAD database, including 1,179 homozygotes. In-silico tool predicts a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_000093.5 splice_region, intron
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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
COL5A1 | NM_000093.5 | c.4230+6G>A | splice_region_variant, intron_variant | Intron 54 of 65 | ENST00000371817.8 | NP_000084.3 | ||
COL5A1 | NM_001278074.1 | c.4230+6G>A | splice_region_variant, intron_variant | Intron 54 of 65 | NP_001265003.1 | |||
COL5A1 | XM_017014266.3 | c.4230+6G>A | splice_region_variant, intron_variant | Intron 54 of 64 | XP_016869755.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
COL5A1 | ENST00000371817.8 | c.4230+6G>A | splice_region_variant, intron_variant | Intron 54 of 65 | 1 | NM_000093.5 | ENSP00000360882.3 | |||
COL5A1 | ENST00000371820.4 | c.4230+6G>A | splice_region_variant, intron_variant | Intron 54 of 65 | 2 | ENSP00000360885.4 |
Frequencies
GnomAD3 genomes AF: 0.0259 AC: 3945AN: 152232Hom.: 91 Cov.: 33
GnomAD3 exomes AF: 0.0255 AC: 5684AN: 222540Hom.: 110 AF XY: 0.0250 AC XY: 3009AN XY: 120224
GnomAD4 exome AF: 0.0353 AC: 51212AN: 1449154Hom.: 1088 Cov.: 33 AF XY: 0.0346 AC XY: 24871AN XY: 719678
GnomAD4 genome AF: 0.0259 AC: 3947AN: 152350Hom.: 91 Cov.: 33 AF XY: 0.0251 AC XY: 1867AN XY: 74502
ClinVar
Submissions by phenotype
not specified Benign:5
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. -
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not provided Benign:2
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Ehlers-Danlos syndrome, classic type, 1 Benign:2
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Fibromuscular dysplasia, multifocal Benign:1
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Ehlers-Danlos syndrome type 7A Benign:1
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Ehlers-Danlos syndrome Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at