7-99052321-C-T
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_181349.3(SMURF1):c.605G>A(p.Ser202Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000273 in 1,612,884 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_181349.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SMURF1 | NM_181349.3 | c.605G>A | p.Ser202Asn | missense_variant | 7/18 | ENST00000361368.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SMURF1 | ENST00000361368.7 | c.605G>A | p.Ser202Asn | missense_variant | 7/18 | 1 | NM_181349.3 | P1 | |
SMURF1 | ENST00000361125.1 | c.605G>A | p.Ser202Asn | missense_variant | 7/19 | 1 | |||
SMURF1 | ENST00000480055.5 | n.903G>A | non_coding_transcript_exon_variant | 7/7 | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.0000329 AC: 5AN: 152182Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000798 AC: 20AN: 250592Hom.: 0 AF XY: 0.0000739 AC XY: 10AN XY: 135394
GnomAD4 exome AF: 0.0000267 AC: 39AN: 1460702Hom.: 0 Cov.: 37 AF XY: 0.0000317 AC XY: 23AN XY: 726516
GnomAD4 genome ? AF: 0.0000329 AC: 5AN: 152182Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74332
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 06, 2021 | The c.605G>A (p.S202N) alteration is located in exon 7 (coding exon 7) of the SMURF1 gene. This alteration results from a G to A substitution at nucleotide position 605, causing the serine (S) at amino acid position 202 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at