chr12-64043534-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_020762.4(SRGAP1):c.760G>A(p.Val254Ile) variant causes a missense change. The variant allele was found at a frequency of 0.0000116 in 1,460,308 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_020762.4 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 |
---|---|---|---|---|---|---|---|
SRGAP1 | NM_020762.4 | c.760G>A | p.Val254Ile | missense_variant | 6/22 | ENST00000355086.8 | |
SRGAP1 | NM_001346201.2 | c.760G>A | p.Val254Ile | missense_variant | 6/22 | ||
SRGAP1 | XM_024449096.2 | c.760G>A | p.Val254Ile | missense_variant | 6/14 | ||
SRGAP1 | XM_024449097.2 | c.760G>A | p.Val254Ile | missense_variant | 6/12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SRGAP1 | ENST00000355086.8 | c.760G>A | p.Val254Ile | missense_variant | 6/22 | 1 | NM_020762.4 | A1 | |
ENST00000535594.1 | n.134-594C>T | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome AF: 0.0000116 AC: 17AN: 1460308Hom.: 0 Cov.: 29 AF XY: 0.0000110 AC XY: 8AN XY: 726454
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
not provided Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Aug 01, 2022 | SRGAP1: PM2 - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.