chr5-121975331-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_152546.3(SRFBP1):āc.142C>Gā(p.Leu48Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000149 in 1,613,212 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_152546.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SRFBP1 | NM_152546.3 | c.142C>G | p.Leu48Val | missense_variant | 3/8 | ENST00000339397.5 | |
SRFBP1 | XM_017009111.3 | c.142C>G | p.Leu48Val | missense_variant | 3/8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SRFBP1 | ENST00000339397.5 | c.142C>G | p.Leu48Val | missense_variant | 3/8 | 1 | NM_152546.3 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000329 AC: 5AN: 151928Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000120 AC: 3AN: 249434Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 135338
GnomAD4 exome AF: 0.0000137 AC: 20AN: 1461166Hom.: 0 Cov.: 31 AF XY: 0.0000124 AC XY: 9AN XY: 726894
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152046Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74332
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 07, 2022 | The c.142C>G (p.L48V) alteration is located in exon 3 (coding exon 3) of the SRFBP1 gene. This alteration results from a C to G substitution at nucleotide position 142, causing the leucine (L) at amino acid position 48 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