chr7-30912089-C-T
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP4_ModerateBP6_ModerateBP7BS2
The NM_198098.4(AQP1):c.180C>T(p.Ile60Ile) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000417 in 1,613,344 control chromosomes in the GnomAD database, including 5 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_198098.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
AQP1 | NM_198098.4 | c.180C>T | p.Ile60Ile | synonymous_variant | Exon 1 of 4 | ENST00000311813.11 | NP_932766.1 | |
AQP1 | NM_001329872.2 | c.180C>T | p.Ile60Ile | synonymous_variant | Exon 1 of 5 | NP_001316801.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
AQP1 | ENST00000311813.11 | c.180C>T | p.Ile60Ile | synonymous_variant | Exon 1 of 4 | 1 | NM_198098.4 | ENSP00000311165.4 | ||
ENSG00000250424 | ENST00000509504.2 | c.717C>T | p.Ile239Ile | synonymous_variant | Exon 8 of 11 | 5 | ENSP00000421315.2 |
Frequencies
GnomAD3 genomes AF: 0.000676 AC: 103AN: 152256Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00136 AC: 340AN: 250670Hom.: 2 AF XY: 0.00127 AC XY: 172AN XY: 135704
GnomAD4 exome AF: 0.000390 AC: 570AN: 1460970Hom.: 5 Cov.: 32 AF XY: 0.000405 AC XY: 294AN XY: 726814
GnomAD4 genome AF: 0.000669 AC: 102AN: 152374Hom.: 0 Cov.: 33 AF XY: 0.000805 AC XY: 60AN XY: 74516
ClinVar
Submissions by phenotype
AQP1-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
not provided Benign:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at