rs147037435
Variant summary
Our verdict is Benign. Variant got -11 ACMG points: 2P and 13B. PM2BP4_StrongBP6_Very_StrongBP7
The NM_206933.4(USH2A):c.14322C>T(p.Ser4774Ser) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000129 in 1,614,120 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_206933.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -11 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
USH2A | ENST00000307340.8 | c.14322C>T | p.Ser4774Ser | synonymous_variant | Exon 65 of 72 | 1 | NM_206933.4 | ENSP00000305941.3 | ||
USH2A | ENST00000674083.1 | c.14322C>T | p.Ser4774Ser | synonymous_variant | Exon 65 of 73 | ENSP00000501296.1 |
Frequencies
GnomAD3 genomes AF: 0.000605 AC: 92AN: 152122Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000163 AC: 41AN: 251128Hom.: 0 AF XY: 0.0000884 AC XY: 12AN XY: 135714
GnomAD4 exome AF: 0.0000807 AC: 118AN: 1461880Hom.: 0 Cov.: 33 AF XY: 0.0000729 AC XY: 53AN XY: 727240
GnomAD4 genome AF: 0.000598 AC: 91AN: 152240Hom.: 0 Cov.: 32 AF XY: 0.000537 AC XY: 40AN XY: 74430
ClinVar
Submissions by phenotype
not specified Benign:1
This variant is not expected to have clinical significance because it does not a lter an amino acid residue, is not located near a splice junction and is listed in dbSNP with a frequency of 0.1% (5/4552) control chromosomes (rs147037435). -
not provided Benign:1
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Retinitis pigmentosa 39 Benign:1
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Usher syndrome type 2A Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at