NM_021947.3:c.1010C>A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_021947.3(SRR):c.1010C>A(p.Ser337Tyr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,461,594 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. S337F) has been classified as Uncertain significance.
Frequency
Consequence
NM_021947.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SRR | ENST00000344595.10 | c.1010C>A | p.Ser337Tyr | missense_variant | Exon 8 of 8 | 1 | NM_021947.3 | ENSP00000339435.5 | ||
TSR1 | ENST00000301364 | c.*336G>T | 3_prime_UTR_variant | Exon 15 of 15 | 1 | NM_018128.5 | ENSP00000301364.4 | |||
SRR | ENST00000576848.1 | c.332C>A | p.Ser111Tyr | missense_variant | Exon 3 of 3 | 4 | ENSP00000476682.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461594Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 727092
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.