rs397518007
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_206933.4(USH2A):c.2829C>T(p.Gly943=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,088 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. G943G) has been classified as Likely benign.
Frequency
Consequence
NM_206933.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
USH2A | NM_206933.4 | c.2829C>T | p.Gly943= | synonymous_variant | 14/72 | ENST00000307340.8 | |
USH2A-AS1 | XR_922596.4 | n.800-5718G>A | intron_variant, non_coding_transcript_variant | ||||
USH2A | NM_007123.6 | c.2829C>T | p.Gly943= | synonymous_variant | 14/21 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
USH2A | ENST00000307340.8 | c.2829C>T | p.Gly943= | synonymous_variant | 14/72 | 1 | NM_206933.4 | P1 | |
USH2A | ENST00000366942.3 | c.2829C>T | p.Gly943= | synonymous_variant | 14/21 | 1 | |||
USH2A | ENST00000674083.1 | c.2829C>T | p.Gly943= | synonymous_variant | 14/73 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461088Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 726786
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at