14-69771282-C-T
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_001320214.2(SRSF5):c.640C>T(p.Arg214Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000263 in 1,614,034 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001320214.2 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SRSF5 | NM_001320214.2 | c.640C>T | p.Arg214Trp | missense_variant | Exon 8 of 8 | ENST00000557154.6 | NP_001307143.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000151 AC: 23AN: 152054Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000179 AC: 45AN: 251466Hom.: 0 AF XY: 0.000184 AC XY: 25AN XY: 135912
GnomAD4 exome AF: 0.000275 AC: 402AN: 1461862Hom.: 0 Cov.: 32 AF XY: 0.000276 AC XY: 201AN XY: 727234
GnomAD4 genome AF: 0.000151 AC: 23AN: 152172Hom.: 0 Cov.: 32 AF XY: 0.000161 AC XY: 12AN XY: 74384
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.640C>T (p.R214W) alteration is located in exon 8 (coding exon 7) of the SRSF5 gene. This alteration results from a C to T substitution at nucleotide position 640, causing the arginine (R) at amino acid position 214 to be replaced by a tryptophan (W). 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