1-29148783-C-T
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_005626.5(SRSF4):c.1112G>A(p.Arg371His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000155 in 1,613,312 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_005626.5 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 |
---|---|---|---|---|---|---|---|
SRSF4 | NM_005626.5 | c.1112G>A | p.Arg371His | missense_variant | 6/6 | ENST00000373795.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SRSF4 | ENST00000373795.7 | c.1112G>A | p.Arg371His | missense_variant | 6/6 | 1 | NM_005626.5 | P1 | |
SRSF4 | ENST00000466448.4 | c.1022G>A | p.Arg341His | missense_variant | 5/5 | 3 | |||
SRSF4 | ENST00000634348.1 | n.7198G>A | non_coding_transcript_exon_variant | 7/7 | 5 | ||||
SRSF4 | ENST00000691479.1 | c.*1319G>A | 3_prime_UTR_variant, NMD_transcript_variant | 10/10 |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152028Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000160 AC: 4AN: 249688Hom.: 0 AF XY: 0.00000740 AC XY: 1AN XY: 135122
GnomAD4 exome AF: 0.0000144 AC: 21AN: 1461284Hom.: 0 Cov.: 29 AF XY: 0.00000825 AC XY: 6AN XY: 726960
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152028Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74258
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 16, 2022 | The c.1112G>A (p.R371H) alteration is located in exon 6 (coding exon 6) of the SRSF4 gene. This alteration results from a G to A substitution at nucleotide position 1112, causing the arginine (R) at amino acid position 371 to be replaced by a histidine (H). 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