1-70221739-A-G
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_001350605.2(SRSF11):c.103A>G(p.Ile35Val) variant causes a missense change. The variant allele was found at a frequency of 0.0000248 in 1,613,964 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001350605.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SRSF11 | NM_001350605.2 | c.103A>G | p.Ile35Val | missense_variant | Exon 1 of 12 | ENST00000370949.2 | NP_001337534.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152188Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000241 AC: 6AN: 248542Hom.: 0 AF XY: 0.0000223 AC XY: 3AN XY: 134648
GnomAD4 exome AF: 0.0000246 AC: 36AN: 1461776Hom.: 0 Cov.: 32 AF XY: 0.0000261 AC XY: 19AN XY: 727182
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152188Hom.: 0 Cov.: 33 AF XY: 0.0000269 AC XY: 2AN XY: 74348
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.103A>G (p.I35V) alteration is located in exon 2 (coding exon 1) of the SRSF11 gene. This alteration results from a A to G substitution at nucleotide position 103, causing the isoleucine (I) at amino acid position 35 to be replaced by a valine (V). 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