rs2580520
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BP4_Strong
The NM_001329984.2(SRGAP2C):c.487-3780C>G variant causes a intron change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.16 ( 449 hom., cov: 7)
Failed GnomAD Quality Control
Consequence
SRGAP2C
NM_001329984.2 intron
NM_001329984.2 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.0620
Genes affected
SRGAP2C (HGNC:30584): (SLIT-ROBO Rho GTPase activating protein 2C) This locus encodes a member of the SLIT-ROBO Rho GTPase activating protein family. This human-specific locus resulted from segmental duplication of the SLIT-ROBO Rho GTPase activating protein 2B locus. The encoded protein lacks the GTPase activating protein domain compared to proteins encoded by SLIT-ROBO Rho GTPase activating protein 2, and acts antagonistically to these proteins in cortical neuron development. [provided by RefSeq, Dec 2012]
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ACMG classification
Classification made for transcript
Verdict is Likely_benign. Variant got -4 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.83).
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SRGAP2C | NM_001329984.2 | c.487-3780C>G | intron_variant | ENST00000367123.8 | |||
SRGAP2-AS1 | NR_104189.1 | n.330-7303G>C | intron_variant, non_coding_transcript_variant | ||||
SRGAP2C | NM_001271872.3 | c.487-3780C>G | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SRGAP2C | ENST00000367123.8 | c.487-3780C>G | intron_variant | 5 | NM_001329984.2 | P1 | |||
SRGAP2-AS1 | ENST00000437515.1 | n.330-7303G>C | intron_variant, non_coding_transcript_variant | 2 | |||||
SRGAP2C | ENST00000304465.7 | c.28-3780C>G | intron_variant | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.00 AC: 8032AN: 51490Hom.: 452 Cov.: 7 FAILED QC
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FAILED QC
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome ? Data not reliable, filtered out with message: AS_VQSR AF: 0.156 AC: 8026AN: 51546Hom.: 449 Cov.: 7 AF XY: 0.145 AC XY: 3580AN XY: 24610
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?
Data not reliable, filtered out with message: AS_VQSR
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ClinVar
Not reported inComputational scores
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Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
Cadd
Benign
Dann
Benign
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at