chr7-99052428-G-A
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP4_StrongBP7BS2
The NM_181349.3(SMURF1):c.498C>T(p.Ser166=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000487 in 1,580,132 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. S166S) has been classified as Benign.
Frequency
Consequence
NM_181349.3 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SMURF1 | NM_181349.3 | c.498C>T | p.Ser166= | synonymous_variant | 7/18 | ENST00000361368.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SMURF1 | ENST00000361368.7 | c.498C>T | p.Ser166= | synonymous_variant | 7/18 | 1 | NM_181349.3 | P1 | |
SMURF1 | ENST00000361125.1 | c.498C>T | p.Ser166= | synonymous_variant | 7/19 | 1 | |||
SMURF1 | ENST00000480055.5 | n.796C>T | non_coding_transcript_exon_variant | 7/7 | 3 |
Frequencies
GnomAD3 genomes AF: 0.0000460 AC: 7AN: 152036Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000786 AC: 18AN: 228896Hom.: 0 AF XY: 0.0000893 AC XY: 11AN XY: 123176
GnomAD4 exome AF: 0.0000497 AC: 71AN: 1427978Hom.: 0 Cov.: 49 AF XY: 0.0000750 AC XY: 53AN XY: 706668
GnomAD4 genome AF: 0.0000394 AC: 6AN: 152154Hom.: 0 Cov.: 33 AF XY: 0.0000269 AC XY: 2AN XY: 74376
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at