X-21971900-T-C
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_004595.5(SMS):c.174T>C(p.Phe58=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: not found (cov: 22)
Exomes 𝑓: 9.4e-7 ( 0 hom. 0 hem. )
Failed GnomAD Quality Control
Consequence
SMS
NM_004595.5 synonymous
NM_004595.5 synonymous
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 1.41
Genes affected
SMS (HGNC:11123): (spermine synthase) This gene encodes a protein belonging to the spermidine/spermin synthase family and catalyzes the production of spermine from spermidine. Pseudogenes of this gene are located on chromosomes 1, 5, 6 and X. Mutations in this gene cause an X-linked intellectual disability called Snyder-Robinson Syndrome (SRS). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]
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ACMG classification
Classification made for transcript
Verdict is Likely_benign. Variant got -3 ACMG points.
PM2
?
Very rare variant in population databases, with high coverage;
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.5).
BP7
?
Synonymous conserved (PhyloP=1.41 with no splicing effect.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SMS | NM_004595.5 | c.174T>C | p.Phe58= | synonymous_variant | 3/11 | ENST00000404933.7 | |
SMS | XM_005274582.3 | c.72T>C | p.Phe24= | synonymous_variant | 3/11 | ||
SMS | XM_011545568.3 | c.72T>C | p.Phe24= | synonymous_variant | 3/11 | ||
SMS | NM_001258423.2 | c.170+4584T>C | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SMS | ENST00000404933.7 | c.174T>C | p.Phe58= | synonymous_variant | 3/11 | 1 | NM_004595.5 | P1 | |
SMS | ENST00000457085.2 | c.519T>C | p.Phe173= | synonymous_variant | 3/6 | 5 | |||
SMS | ENST00000379404.5 | c.170+4584T>C | intron_variant | 3 | |||||
SMS | ENST00000478094.1 | n.218-607T>C | intron_variant, non_coding_transcript_variant | 4 |
Frequencies
GnomAD3 genomes ? Cov.: 22
GnomAD3 genomes
?
Cov.:
22
GnomAD3 exomes AF: 0.00000546 AC: 1AN: 183176Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 67768
GnomAD3 exomes
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GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 9.39e-7 AC: 1AN: 1065116Hom.: 0 Cov.: 27 AF XY: 0.00 AC XY: 0AN XY: 336370
GnomAD4 exome
Data not reliable, filtered out with message: AS_VQSR
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GnomAD4 genome ? Cov.: 22
GnomAD4 genome
?
Cov.:
22
ClinVar
Not reported inComputational scores
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Name
Calibrated prediction
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Prediction
BayesDel_noAF
Benign
Cadd
Benign
Dann
Benign
Splicing
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at