chr5-76403579-C-A
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Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2
The NM_006633.5(IQGAP2):c.34C>A(p.Pro12Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000139 in 1,543,222 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Genomes: 𝑓 0.00034 ( 0 hom., cov: 32)
Exomes 𝑓: 0.00012 ( 0 hom. )
Consequence
IQGAP2
NM_006633.5 missense
NM_006633.5 missense
Scores
1
5
12
Clinical Significance
Conservation
PhyloP100: 3.45
Genes affected
IQGAP2 (HGNC:6111): (IQ motif containing GTPase activating protein 2) This gene encodes a member of the IQGAP family. The encoded protein contains three IQ domains, one calponin homology domain, one Ras-GAP domain and one WW domain. This protein interacts with components of the cytoskeleton, with cell adhesion molecules, and with several signaling molecules to regulate cell morphology and motility. It also acts as a tumor suppressor and has been found to play a role in regulating innate antiviral responses. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2017]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -10 ACMG points.
BP4
Computational evidence support a benign effect (MetaRNN=0.006500095).
BP6
Variant 5-76403579-C-A is Benign according to our data. Variant chr5-76403579-C-A is described in ClinVar as [Benign]. Clinvar id is 729524.Status of the report is criteria_provided_single_submitter, 1 stars.
BS2
High AC in GnomAd4 at 52 AD gene.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
IQGAP2 | NM_006633.5 | c.34C>A | p.Pro12Thr | missense_variant | 1/36 | ENST00000274364.11 | NP_006624.3 | |
IQGAP2 | XM_017008960.2 | c.34C>A | p.Pro12Thr | missense_variant | 1/35 | XP_016864449.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
IQGAP2 | ENST00000274364.11 | c.34C>A | p.Pro12Thr | missense_variant | 1/36 | 1 | NM_006633.5 | ENSP00000274364 | P1 | |
IQGAP2 | ENST00000692467.1 | n.235C>A | non_coding_transcript_exon_variant | 1/2 |
Frequencies
GnomAD3 genomes AF: 0.000342 AC: 52AN: 152072Hom.: 0 Cov.: 32
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GnomAD3 exomes AF: 0.000575 AC: 83AN: 144442Hom.: 0 AF XY: 0.000509 AC XY: 41AN XY: 80564
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GnomAD4 exome AF: 0.000117 AC: 163AN: 1391036Hom.: 0 Cov.: 30 AF XY: 0.000106 AC XY: 73AN XY: 688496
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GnomAD4 genome AF: 0.000342 AC: 52AN: 152186Hom.: 0 Cov.: 32 AF XY: 0.000457 AC XY: 34AN XY: 74428
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ClinVar
Significance: Benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Apr 16, 2018 | - - |
Computational scores
Source:
Name
Calibrated prediction
Score
Prediction
AlphaMissense
Uncertain
BayesDel_addAF
Benign
T
BayesDel_noAF
Benign
CADD
Uncertain
DANN
Uncertain
DEOGEN2
Benign
T
Eigen
Benign
Eigen_PC
Benign
FATHMM_MKL
Benign
D
LIST_S2
Uncertain
D
MetaRNN
Benign
T
MetaSVM
Benign
T
MutationAssessor
Benign
M
MutationTaster
Benign
D;D
PrimateAI
Pathogenic
D
PROVEAN
Uncertain
D
REVEL
Benign
Sift
Uncertain
D
Sift4G
Benign
T
Polyphen
B
Vest4
MutPred
Gain of phosphorylation at P12 (P = 0.0245);
MVP
MPC
ClinPred
T
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gMVP
Splicing
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at