rs104886155
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 4P and 1B. PM1PM2BP4
The NM_033380.3(COL4A5):āc.2107A>Gā(p.Ile703Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000381 in 1,050,529 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 1 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ). Synonymous variant affecting the same amino acid position (i.e. I703I) has been classified as Likely benign.
Frequency
Consequence
NM_033380.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
COL4A5 | NM_033380.3 | c.2107A>G | p.Ile703Val | missense_variant | 27/53 | ENST00000328300.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
COL4A5 | ENST00000328300.11 | c.2107A>G | p.Ile703Val | missense_variant | 27/53 | 1 | NM_033380.3 | ||
COL4A5 | ENST00000483338.1 | c.931A>G | p.Ile311Val | missense_variant | 11/20 | 1 | |||
COL4A5 | ENST00000361603.7 | c.2107A>G | p.Ile703Val | missense_variant | 27/51 | 2 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 22
GnomAD3 exomes AF: 0.0000154 AC: 2AN: 129931Hom.: 0 AF XY: 0.0000242 AC XY: 1AN XY: 41375
GnomAD4 exome AF: 0.00000381 AC: 4AN: 1050529Hom.: 0 Cov.: 26 AF XY: 0.00000301 AC XY: 1AN XY: 332401
GnomAD4 genome ? Cov.: 22
ClinVar
Submissions by phenotype
X-linked Alport syndrome Benign:1
Benign, criteria provided, single submitter | clinical testing | Mendelics | May 28, 2019 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at