chr4-87493670-A-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_004684.6(SPARCL1):āc.1130T>Cā(p.Ile377Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000342 in 1,461,856 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_004684.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SPARCL1 | NM_004684.6 | c.1130T>C | p.Ile377Thr | missense_variant | 4/11 | ENST00000282470.11 | |
SPARCL1 | NM_001128310.3 | c.1130T>C | p.Ile377Thr | missense_variant | 5/12 | ||
SPARCL1 | NM_001291976.2 | c.755T>C | p.Ile252Thr | missense_variant | 5/12 | ||
SPARCL1 | NM_001291977.2 | c.755T>C | p.Ile252Thr | missense_variant | 3/10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SPARCL1 | ENST00000282470.11 | c.1130T>C | p.Ile377Thr | missense_variant | 4/11 | 1 | NM_004684.6 | P2 | |
SPARCL1 | ENST00000418378.5 | c.1130T>C | p.Ile377Thr | missense_variant | 5/12 | 5 | P2 | ||
SPARCL1 | ENST00000503414.5 | c.755T>C | p.Ile252Thr | missense_variant | 5/12 | 2 | A2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000239 AC: 6AN: 251114Hom.: 0 AF XY: 0.0000368 AC XY: 5AN XY: 135704
GnomAD4 exome AF: 0.00000342 AC: 5AN: 1461856Hom.: 0 Cov.: 32 AF XY: 0.00000413 AC XY: 3AN XY: 727224
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | May 17, 2023 | The c.1130T>C (p.I377T) alteration is located in exon 5 (coding exon 3) of the SPARCL1 gene. This alteration results from a T to C substitution at nucleotide position 1130, causing the isoleucine (I) at amino acid position 377 to be replaced by a threonine (T). 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