5-122019291-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_152546.3(SRFBP1):c.302C>A(p.Ala101Asp) variant causes a missense change. The variant allele was found at a frequency of 0.0000571 in 1,612,254 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. A101V) has been classified as Uncertain significance.
Frequency
Consequence
NM_152546.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SRFBP1 | NM_152546.3 | c.302C>A | p.Ala101Asp | missense_variant | 5/8 | ENST00000339397.5 | |
SRFBP1 | XM_017009111.3 | c.302C>A | p.Ala101Asp | missense_variant | 5/8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SRFBP1 | ENST00000339397.5 | c.302C>A | p.Ala101Asp | missense_variant | 5/8 | 1 | NM_152546.3 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152016Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000563 AC: 14AN: 248744Hom.: 0 AF XY: 0.0000370 AC XY: 5AN XY: 134980
GnomAD4 exome AF: 0.0000603 AC: 88AN: 1460238Hom.: 0 Cov.: 30 AF XY: 0.0000537 AC XY: 39AN XY: 726434
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152016Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74234
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 26, 2022 | The c.302C>A (p.A101D) alteration is located in exon 5 (coding exon 5) of the SRFBP1 gene. This alteration results from a C to A substitution at nucleotide position 302, causing the alanine (A) at amino acid position 101 to be replaced by an aspartic acid (D). 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